Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.27851345_27851348delCA2627378254OCA2c.2338+36_2338+39del (n.2338+36_2338+39del)
c.2266+36_2266+39del (n.2266+36_2266+39del)
c.2404+36_2404+39del (n.2404+36_2404+39del)
c.2380+36_2380+39del (n.2380+36_2380+39del)
c.2362+36_2362+39del (n.2362+36_2362+39del)
c.2332+36_2332+39del (n.2332+36_2332+39del)
c.2290+36_2290+39del (n.2290+36_2290+39del)
c.2197+36_2197+39del (n.2197+36_2197+39del)
c.2209+36_2209+39del (n.2209+36_2209+39del)
c.2268+19808_2268+19811del (n.2268+19808_2268+19811del)
gnomAD v4
15g.27851347G>ACA2575652857OCA2c.2338+35C>T (n.2338+35C>T)
c.2266+35C>T (n.2266+35C>T)
c.2404+35C>T (n.2404+35C>T)
c.2380+35C>T (n.2380+35C>T)
c.2362+35C>T (n.2362+35C>T)
c.2332+35C>T (n.2332+35C>T)
c.2290+35C>T (n.2290+35C>T)
c.2197+35C>T (n.2197+35C>T)
c.2209+35C>T (n.2209+35C>T)
c.2268+19807C>T (n.2268+19807C>T)
gnomAD v4
15g.27851347G>TCA2627378256OCA2c.2338+35C>A (n.2338+35C>A)
c.2266+35C>A (n.2266+35C>A)
c.2404+35C>A (n.2404+35C>A)
c.2380+35C>A (n.2380+35C>A)
c.2362+35C>A (n.2362+35C>A)
c.2332+35C>A (n.2332+35C>A)
c.2290+35C>A (n.2290+35C>A)
c.2197+35C>A (n.2197+35C>A)
c.2209+35C>A (n.2209+35C>A)
c.2268+19807C>A (n.2268+19807C>A)
gnomAD v4
15g.27851348C=CA2166351957OCA2c.2338+34G= (n.2338+34G=)
c.2266+34G= (n.2266+34G=)
c.2404+34G= (n.2404+34G=)
c.2380+34G= (n.2380+34G=)
c.2362+34G= (n.2362+34G=)
c.2332+34G= (n.2332+34G=)
c.2290+34G= (n.2290+34G=)
c.2197+34G= (n.2197+34G=)
c.2209+34G= (n.2209+34G=)
c.2268+19806G= (n.2268+19806G=)
15g.27851348C>TCA7438616OCA2c.2338+34G>A (n.2338+34G>A)
c.2266+34G>A (n.2266+34G>A)
c.2404+34G>A (n.2404+34G>A)
c.2380+34G>A (n.2380+34G>A)
c.2362+34G>A (n.2362+34G>A)
c.2332+34G>A (n.2332+34G>A)
c.2290+34G>A (n.2290+34G>A)
c.2197+34G>A (n.2197+34G>A)
c.2209+34G>A (n.2209+34G>A)
c.2268+19806G>A (n.2268+19806G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851356_27851361delCA2575652858OCA2c.2338+29_2338+34del (n.2338+29_2338+34del)
c.2266+29_2266+34del (n.2266+29_2266+34del)
c.2404+29_2404+34del (n.2404+29_2404+34del)
c.2380+29_2380+34del (n.2380+29_2380+34del)
c.2362+29_2362+34del (n.2362+29_2362+34del)
c.2332+29_2332+34del (n.2332+29_2332+34del)
c.2290+29_2290+34del (n.2290+29_2290+34del)
c.2197+29_2197+34del (n.2197+29_2197+34del)
c.2209+29_2209+34del (n.2209+29_2209+34del)
c.2268+19801_2268+19806del (n.2268+19801_2268+19806del)
gnomAD v4
15g.27851349_27851350delinsACCA2166351958OCA2c.2338+32_2338+33delinsGT (n.2338+32_2338+33delinsGT)
c.2266+32_2266+33delinsGT (n.2266+32_2266+33delinsGT)
c.2404+32_2404+33delinsGT (n.2404+32_2404+33delinsGT)
c.2380+32_2380+33delinsGT (n.2380+32_2380+33delinsGT)
c.2362+32_2362+33delinsGT (n.2362+32_2362+33delinsGT)
c.2332+32_2332+33delinsGT (n.2332+32_2332+33delinsGT)
c.2290+32_2290+33delinsGT (n.2290+32_2290+33delinsGT)
c.2197+32_2197+33delinsGT (n.2197+32_2197+33delinsGT)
c.2209+32_2209+33delinsGT (n.2209+32_2209+33delinsGT)
c.2268+19804_2268+19805delinsGT (n.2268+19804_2268+19805delinsGT)
15g.27851350C>ACA2627378257OCA2c.2338+32G>T (n.2338+32G>T)
c.2266+32G>T (n.2266+32G>T)
c.2404+32G>T (n.2404+32G>T)
c.2380+32G>T (n.2380+32G>T)
c.2362+32G>T (n.2362+32G>T)
c.2332+32G>T (n.2332+32G>T)
c.2290+32G>T (n.2290+32G>T)
c.2197+32G>T (n.2197+32G>T)
c.2209+32G>T (n.2209+32G>T)
c.2268+19804G>T (n.2268+19804G>T)
gnomAD v4
15g.27851350C=CA2166351959OCA2c.2338+32G= (n.2338+32G=)
c.2266+32G= (n.2266+32G=)
c.2404+32G= (n.2404+32G=)
c.2380+32G= (n.2380+32G=)
c.2362+32G= (n.2362+32G=)
c.2332+32G= (n.2332+32G=)
c.2290+32G= (n.2290+32G=)
c.2197+32G= (n.2197+32G=)
c.2209+32G= (n.2209+32G=)
c.2268+19804G= (n.2268+19804G=)
15g.27851350C>GCA711710153OCA2c.2338+32G>C (n.2338+32G>C)
c.2266+32G>C (n.2266+32G>C)
c.2404+32G>C (n.2404+32G>C)
c.2380+32G>C (n.2380+32G>C)
c.2362+32G>C (n.2362+32G>C)
c.2332+32G>C (n.2332+32G>C)
c.2290+32G>C (n.2290+32G>C)
c.2197+32G>C (n.2197+32G>C)
c.2209+32G>C (n.2209+32G>C)
c.2268+19804G>C (n.2268+19804G>C)
dbSNP
15g.27851350C>TCA616702006OCA2c.2338+32G>A (n.2338+32G>A)
c.2266+32G>A (n.2266+32G>A)
c.2404+32G>A (n.2404+32G>A)
c.2380+32G>A (n.2380+32G>A)
c.2362+32G>A (n.2362+32G>A)
c.2332+32G>A (n.2332+32G>A)
c.2290+32G>A (n.2290+32G>A)
c.2197+32G>A (n.2197+32G>A)
c.2209+32G>A (n.2209+32G>A)
c.2268+19804G>A (n.2268+19804G>A)
dbSNP gnomAD v2 gnomAD v4
15g.27851354dupCA2803490093OCA2c.2338+32dup (n.2338+32dup)
c.2266+32dup (n.2266+32dup)
c.2404+32dup (n.2404+32dup)
c.2380+32dup (n.2380+32dup)
c.2362+32dup (n.2362+32dup)
c.2332+32dup (n.2332+32dup)
c.2290+32dup (n.2290+32dup)
c.2197+32dup (n.2197+32dup)
c.2209+32dup (n.2209+32dup)
c.2268+19804dup (n.2268+19804dup)
15g.27851354delCA7438617OCA2c.2338+32del (n.2338+32del)
c.2266+32del (n.2266+32del)
c.2404+32del (n.2404+32del)
c.2380+32del (n.2380+32del)
c.2362+32del (n.2362+32del)
c.2332+32del (n.2332+32del)
c.2290+32del (n.2290+32del)
c.2197+32del (n.2197+32del)
c.2209+32del (n.2209+32del)
c.2268+19804del (n.2268+19804del)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851351C>ACA7438618OCA2c.2338+31G>T (n.2338+31G>T)
c.2266+31G>T (n.2266+31G>T)
c.2404+31G>T (n.2404+31G>T)
c.2380+31G>T (n.2380+31G>T)
c.2362+31G>T (n.2362+31G>T)
c.2332+31G>T (n.2332+31G>T)
c.2290+31G>T (n.2290+31G>T)
c.2197+31G>T (n.2197+31G>T)
c.2209+31G>T (n.2209+31G>T)
c.2268+19803G>T (n.2268+19803G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851351C=CA2166351960OCA2c.2338+31G= (n.2338+31G=)
c.2266+31G= (n.2266+31G=)
c.2404+31G= (n.2404+31G=)
c.2380+31G= (n.2380+31G=)
c.2362+31G= (n.2362+31G=)
c.2332+31G= (n.2332+31G=)
c.2290+31G= (n.2290+31G=)
c.2197+31G= (n.2197+31G=)
c.2209+31G= (n.2209+31G=)
c.2268+19803G= (n.2268+19803G=)
15g.27851351C>GCA267844885OCA2c.2338+31G>C (n.2338+31G>C)
c.2266+31G>C (n.2266+31G>C)
c.2404+31G>C (n.2404+31G>C)
c.2380+31G>C (n.2380+31G>C)
c.2362+31G>C (n.2362+31G>C)
c.2332+31G>C (n.2332+31G>C)
c.2290+31G>C (n.2290+31G>C)
c.2197+31G>C (n.2197+31G>C)
c.2209+31G>C (n.2209+31G>C)
c.2268+19803G>C (n.2268+19803G>C)
dbSNP gnomAD v4
15g.27851351C>TCA7438619OCA2c.2338+31G>A (n.2338+31G>A)
c.2266+31G>A (n.2266+31G>A)
c.2404+31G>A (n.2404+31G>A)
c.2380+31G>A (n.2380+31G>A)
c.2362+31G>A (n.2362+31G>A)
c.2332+31G>A (n.2332+31G>A)
c.2290+31G>A (n.2290+31G>A)
c.2197+31G>A (n.2197+31G>A)
c.2209+31G>A (n.2209+31G>A)
c.2268+19803G>A (n.2268+19803G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851352C>ACA7438621OCA2c.2338+30G>T (n.2338+30G>T)
c.2266+30G>T (n.2266+30G>T)
c.2404+30G>T (n.2404+30G>T)
c.2380+30G>T (n.2380+30G>T)
c.2362+30G>T (n.2362+30G>T)
c.2332+30G>T (n.2332+30G>T)
c.2290+30G>T (n.2290+30G>T)
c.2197+30G>T (n.2197+30G>T)
c.2209+30G>T (n.2209+30G>T)
c.2268+19802G>T (n.2268+19802G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851352C=CA2166351961OCA2c.2338+30G= (n.2338+30G=)
c.2266+30G= (n.2266+30G=)
c.2404+30G= (n.2404+30G=)
c.2380+30G= (n.2380+30G=)
c.2362+30G= (n.2362+30G=)
c.2332+30G= (n.2332+30G=)
c.2290+30G= (n.2290+30G=)
c.2197+30G= (n.2197+30G=)
c.2209+30G= (n.2209+30G=)
c.2268+19802G= (n.2268+19802G=)
15g.27851352C>GCA7438620OCA2c.2338+30G>C (n.2338+30G>C)
c.2266+30G>C (n.2266+30G>C)
c.2404+30G>C (n.2404+30G>C)
c.2380+30G>C (n.2380+30G>C)
c.2362+30G>C (n.2362+30G>C)
c.2332+30G>C (n.2332+30G>C)
c.2290+30G>C (n.2290+30G>C)
c.2197+30G>C (n.2197+30G>C)
c.2209+30G>C (n.2209+30G>C)
c.2268+19802G>C (n.2268+19802G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851352C>TCA7438622OCA2c.2338+30G>A (n.2338+30G>A)
c.2266+30G>A (n.2266+30G>A)
c.2404+30G>A (n.2404+30G>A)
c.2380+30G>A (n.2380+30G>A)
c.2362+30G>A (n.2362+30G>A)
c.2332+30G>A (n.2332+30G>A)
c.2290+30G>A (n.2290+30G>A)
c.2197+30G>A (n.2197+30G>A)
c.2209+30G>A (n.2209+30G>A)
c.2268+19802G>A (n.2268+19802G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851353C>ACA7438623OCA2c.2338+29G>T (n.2338+29G>T)
c.2266+29G>T (n.2266+29G>T)
c.2404+29G>T (n.2404+29G>T)
c.2380+29G>T (n.2380+29G>T)
c.2362+29G>T (n.2362+29G>T)
c.2332+29G>T (n.2332+29G>T)
c.2290+29G>T (n.2290+29G>T)
c.2197+29G>T (n.2197+29G>T)
c.2209+29G>T (n.2209+29G>T)
c.2268+19801G>T (n.2268+19801G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851353C=CA2166351962OCA2c.2338+29G= (n.2338+29G=)
c.2266+29G= (n.2266+29G=)
c.2404+29G= (n.2404+29G=)
c.2380+29G= (n.2380+29G=)
c.2362+29G= (n.2362+29G=)
c.2332+29G= (n.2332+29G=)
c.2290+29G= (n.2290+29G=)
c.2197+29G= (n.2197+29G=)
c.2209+29G= (n.2209+29G=)
c.2268+19801G= (n.2268+19801G=)
15g.27851353C>TCA2627378258OCA2c.2338+29G>A (n.2338+29G>A)
c.2266+29G>A (n.2266+29G>A)
c.2404+29G>A (n.2404+29G>A)
c.2380+29G>A (n.2380+29G>A)
c.2362+29G>A (n.2362+29G>A)
c.2332+29G>A (n.2332+29G>A)
c.2290+29G>A (n.2290+29G>A)
c.2197+29G>A (n.2197+29G>A)
c.2209+29G>A (n.2209+29G>A)
c.2268+19801G>A (n.2268+19801G>A)
gnomAD v4
15g.27851354C>TCA2627378259OCA2c.2338+28G>A (n.2338+28G>A)
c.2266+28G>A (n.2266+28G>A)
c.2404+28G>A (n.2404+28G>A)
c.2380+28G>A (n.2380+28G>A)
c.2362+28G>A (n.2362+28G>A)
c.2332+28G>A (n.2332+28G>A)
c.2290+28G>A (n.2290+28G>A)
c.2197+28G>A (n.2197+28G>A)
c.2209+28G>A (n.2209+28G>A)
c.2268+19800G>A (n.2268+19800G>A)
gnomAD v4
15g.27851355_27851356delinsACCA2166351963OCA2c.2338+26_2338+27delinsGT (n.2338+26_2338+27delinsGT)
c.2266+26_2266+27delinsGT (n.2266+26_2266+27delinsGT)
c.2404+26_2404+27delinsGT (n.2404+26_2404+27delinsGT)
c.2380+26_2380+27delinsGT (n.2380+26_2380+27delinsGT)
c.2362+26_2362+27delinsGT (n.2362+26_2362+27delinsGT)
c.2332+26_2332+27delinsGT (n.2332+26_2332+27delinsGT)
c.2290+26_2290+27delinsGT (n.2290+26_2290+27delinsGT)
c.2197+26_2197+27delinsGT (n.2197+26_2197+27delinsGT)
c.2209+26_2209+27delinsGT (n.2209+26_2209+27delinsGT)
c.2268+19798_2268+19799delinsGT (n.2268+19798_2268+19799delinsGT)
15g.27851356C=CA2166351964OCA2c.2338+26G= (n.2338+26G=)
c.2266+26G= (n.2266+26G=)
c.2404+26G= (n.2404+26G=)
c.2380+26G= (n.2380+26G=)
c.2362+26G= (n.2362+26G=)
c.2332+26G= (n.2332+26G=)
c.2290+26G= (n.2290+26G=)
c.2197+26G= (n.2197+26G=)
c.2209+26G= (n.2209+26G=)
c.2268+19798G= (n.2268+19798G=)
15g.27851356C>TCA711710161OCA2c.2338+26G>A (n.2338+26G>A)
c.2266+26G>A (n.2266+26G>A)
c.2404+26G>A (n.2404+26G>A)
c.2380+26G>A (n.2380+26G>A)
c.2362+26G>A (n.2362+26G>A)
c.2332+26G>A (n.2332+26G>A)
c.2290+26G>A (n.2290+26G>A)
c.2197+26G>A (n.2197+26G>A)
c.2209+26G>A (n.2209+26G>A)
c.2268+19798G>A (n.2268+19798G>A)
dbSNP gnomAD v3 gnomAD v4
15g.27851360delCA7438624OCA2c.2338+26del (n.2338+26del)
c.2266+26del (n.2266+26del)
c.2404+26del (n.2404+26del)
c.2380+26del (n.2380+26del)
c.2362+26del (n.2362+26del)
c.2332+26del (n.2332+26del)
c.2290+26del (n.2290+26del)
c.2197+26del (n.2197+26del)
c.2209+26del (n.2209+26del)
c.2268+19798del (n.2268+19798del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851357C>ACA2627378260OCA2c.2338+25G>T (n.2338+25G>T)
c.2266+25G>T (n.2266+25G>T)
c.2404+25G>T (n.2404+25G>T)
c.2380+25G>T (n.2380+25G>T)
c.2362+25G>T (n.2362+25G>T)
c.2332+25G>T (n.2332+25G>T)
c.2290+25G>T (n.2290+25G>T)
c.2197+25G>T (n.2197+25G>T)
c.2209+25G>T (n.2209+25G>T)
c.2268+19797G>T (n.2268+19797G>T)
gnomAD v4
15g.27851357C>TCA2627378261OCA2c.2338+25G>A (n.2338+25G>A)
c.2266+25G>A (n.2266+25G>A)
c.2404+25G>A (n.2404+25G>A)
c.2380+25G>A (n.2380+25G>A)
c.2362+25G>A (n.2362+25G>A)
c.2332+25G>A (n.2332+25G>A)
c.2290+25G>A (n.2290+25G>A)
c.2197+25G>A (n.2197+25G>A)
c.2209+25G>A (n.2209+25G>A)
c.2268+19797G>A (n.2268+19797G>A)
gnomAD v4
15g.27851358C>TCA2627378262OCA2c.2338+24G>A (n.2338+24G>A)
c.2266+24G>A (n.2266+24G>A)
c.2404+24G>A (n.2404+24G>A)
c.2380+24G>A (n.2380+24G>A)
c.2362+24G>A (n.2362+24G>A)
c.2332+24G>A (n.2332+24G>A)
c.2290+24G>A (n.2290+24G>A)
c.2197+24G>A (n.2197+24G>A)
c.2209+24G>A (n.2209+24G>A)
c.2268+19796G>A (n.2268+19796G>A)
gnomAD v4
15g.27851359C>ACA2166351967OCA2c.2338+23G>T (n.2338+23G>T)
c.2266+23G>T (n.2266+23G>T)
c.2404+23G>T (n.2404+23G>T)
c.2380+23G>T (n.2380+23G>T)
c.2362+23G>T (n.2362+23G>T)
c.2332+23G>T (n.2332+23G>T)
c.2290+23G>T (n.2290+23G>T)
c.2197+23G>T (n.2197+23G>T)
c.2209+23G>T (n.2209+23G>T)
c.2268+19795G>T (n.2268+19795G>T)
dbSNP gnomAD v3 gnomAD v4
15g.27851359C=CA2166351965OCA2c.2338+23G= (n.2338+23G=)
c.2266+23G= (n.2266+23G=)
c.2404+23G= (n.2404+23G=)
c.2380+23G= (n.2380+23G=)
c.2362+23G= (n.2362+23G=)
c.2332+23G= (n.2332+23G=)
c.2290+23G= (n.2290+23G=)
c.2197+23G= (n.2197+23G=)
c.2209+23G= (n.2209+23G=)
c.2268+19795G= (n.2268+19795G=)
15g.27851359C>GCA2166351966OCA2c.2338+23G>C (n.2338+23G>C)
c.2266+23G>C (n.2266+23G>C)
c.2404+23G>C (n.2404+23G>C)
c.2380+23G>C (n.2380+23G>C)
c.2362+23G>C (n.2362+23G>C)
c.2332+23G>C (n.2332+23G>C)
c.2290+23G>C (n.2290+23G>C)
c.2197+23G>C (n.2197+23G>C)
c.2209+23G>C (n.2209+23G>C)
c.2268+19795G>C (n.2268+19795G>C)
dbSNP
15g.27851360C>ACA2568842332OCA2c.2338+22G>T (n.2338+22G>T)
c.2266+22G>T (n.2266+22G>T)
c.2404+22G>T (n.2404+22G>T)
c.2380+22G>T (n.2380+22G>T)
c.2362+22G>T (n.2362+22G>T)
c.2332+22G>T (n.2332+22G>T)
c.2290+22G>T (n.2290+22G>T)
c.2197+22G>T (n.2197+22G>T)
c.2209+22G>T (n.2209+22G>T)
c.2268+19794G>T (n.2268+19794G>T)
15g.27851360C=CA2166351968OCA2c.2338+22G= (n.2338+22G=)
c.2266+22G= (n.2266+22G=)
c.2404+22G= (n.2404+22G=)
c.2380+22G= (n.2380+22G=)
c.2362+22G= (n.2362+22G=)
c.2332+22G= (n.2332+22G=)
c.2290+22G= (n.2290+22G=)
c.2197+22G= (n.2197+22G=)
c.2209+22G= (n.2209+22G=)
c.2268+19794G= (n.2268+19794G=)
15g.27851360C>GCA2803490094OCA2c.2338+22G>C (n.2338+22G>C)
c.2266+22G>C (n.2266+22G>C)
c.2404+22G>C (n.2404+22G>C)
c.2380+22G>C (n.2380+22G>C)
c.2362+22G>C (n.2362+22G>C)
c.2332+22G>C (n.2332+22G>C)
c.2290+22G>C (n.2290+22G>C)
c.2197+22G>C (n.2197+22G>C)
c.2209+22G>C (n.2209+22G>C)
c.2268+19794G>C (n.2268+19794G>C)
15g.27851360C>TCA968019725OCA2c.2338+22G>A (n.2338+22G>A)
c.2266+22G>A (n.2266+22G>A)
c.2404+22G>A (n.2404+22G>A)
c.2380+22G>A (n.2380+22G>A)
c.2362+22G>A (n.2362+22G>A)
c.2332+22G>A (n.2332+22G>A)
c.2290+22G>A (n.2290+22G>A)
c.2197+22G>A (n.2197+22G>A)
c.2209+22G>A (n.2209+22G>A)
c.2268+19794G>A (n.2268+19794G>A)
dbSNP gnomAD v3 gnomAD v4
15g.27851362T>ACA7438625OCA2c.2338+20A>T (n.2338+20A>T)
c.2266+20A>T (n.2266+20A>T)
c.2404+20A>T (n.2404+20A>T)
c.2380+20A>T (n.2380+20A>T)
c.2362+20A>T (n.2362+20A>T)
c.2332+20A>T (n.2332+20A>T)
c.2290+20A>T (n.2290+20A>T)
c.2197+20A>T (n.2197+20A>T)
c.2209+20A>T (n.2209+20A>T)
c.2268+19792A>T (n.2268+19792A>T)
dbSNP ExAC gnomAD v2
15g.27851362T>CCA267844939OCA2c.2338+20A>G (n.2338+20A>G)
c.2266+20A>G (n.2266+20A>G)
c.2404+20A>G (n.2404+20A>G)
c.2380+20A>G (n.2380+20A>G)
c.2362+20A>G (n.2362+20A>G)
c.2332+20A>G (n.2332+20A>G)
c.2290+20A>G (n.2290+20A>G)
c.2197+20A>G (n.2197+20A>G)
c.2209+20A>G (n.2209+20A>G)
c.2268+19792A>G (n.2268+19792A>G)
dbSNP
15g.27851362T>GCA2627378263OCA2c.2338+20A>C (n.2338+20A>C)
c.2266+20A>C (n.2266+20A>C)
c.2404+20A>C (n.2404+20A>C)
c.2380+20A>C (n.2380+20A>C)
c.2362+20A>C (n.2362+20A>C)
c.2332+20A>C (n.2332+20A>C)
c.2290+20A>C (n.2290+20A>C)
c.2197+20A>C (n.2197+20A>C)
c.2209+20A>C (n.2209+20A>C)
c.2268+19792A>C (n.2268+19792A>C)
gnomAD v4
15g.27851362T=CA2166351969OCA2c.2338+20A= (n.2338+20A=)
c.2266+20A= (n.2266+20A=)
c.2404+20A= (n.2404+20A=)
c.2380+20A= (n.2380+20A=)
c.2362+20A= (n.2362+20A=)
c.2332+20A= (n.2332+20A=)
c.2290+20A= (n.2290+20A=)
c.2197+20A= (n.2197+20A=)
c.2209+20A= (n.2209+20A=)
c.2268+19792A= (n.2268+19792A=)
15g.27851363G>ACA2627378264OCA2c.2338+19C>T (n.2338+19C>T)
c.2266+19C>T (n.2266+19C>T)
c.2404+19C>T (n.2404+19C>T)
c.2380+19C>T (n.2380+19C>T)
c.2362+19C>T (n.2362+19C>T)
c.2332+19C>T (n.2332+19C>T)
c.2290+19C>T (n.2290+19C>T)
c.2197+19C>T (n.2197+19C>T)
c.2209+19C>T (n.2209+19C>T)
c.2268+19791C>T (n.2268+19791C>T)
ClinVar gnomAD v4
15g.27851363G>TCA2627378265OCA2c.2338+19C>A (n.2338+19C>A)
c.2266+19C>A (n.2266+19C>A)
c.2404+19C>A (n.2404+19C>A)
c.2380+19C>A (n.2380+19C>A)
c.2362+19C>A (n.2362+19C>A)
c.2332+19C>A (n.2332+19C>A)
c.2290+19C>A (n.2290+19C>A)
c.2197+19C>A (n.2197+19C>A)
c.2209+19C>A (n.2209+19C>A)
c.2268+19791C>A (n.2268+19791C>A)
gnomAD v4
15g.27851364C>ACA2166351971OCA2c.2338+18G>T (n.2338+18G>T)
c.2266+18G>T (n.2266+18G>T)
c.2404+18G>T (n.2404+18G>T)
c.2380+18G>T (n.2380+18G>T)
c.2362+18G>T (n.2362+18G>T)
c.2332+18G>T (n.2332+18G>T)
c.2290+18G>T (n.2290+18G>T)
c.2197+18G>T (n.2197+18G>T)
c.2209+18G>T (n.2209+18G>T)
c.2268+19790G>T (n.2268+19790G>T)
ClinVar dbSNP
15g.27851364C=CA2166351970OCA2c.2338+18G= (n.2338+18G=)
c.2266+18G= (n.2266+18G=)
c.2404+18G= (n.2404+18G=)
c.2380+18G= (n.2380+18G=)
c.2362+18G= (n.2362+18G=)
c.2332+18G= (n.2332+18G=)
c.2290+18G= (n.2290+18G=)
c.2197+18G= (n.2197+18G=)
c.2209+18G= (n.2209+18G=)
c.2268+19790G= (n.2268+19790G=)
15g.27851364C>GCA7438626OCA2c.2338+18G>C (n.2338+18G>C)
c.2266+18G>C (n.2266+18G>C)
c.2404+18G>C (n.2404+18G>C)
c.2380+18G>C (n.2380+18G>C)
c.2362+18G>C (n.2362+18G>C)
c.2332+18G>C (n.2332+18G>C)
c.2290+18G>C (n.2290+18G>C)
c.2197+18G>C (n.2197+18G>C)
c.2209+18G>C (n.2209+18G>C)
c.2268+19790G>C (n.2268+19790G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851364C>TCA7438627OCA2c.2338+18G>A (n.2338+18G>A)
c.2266+18G>A (n.2266+18G>A)
c.2404+18G>A (n.2404+18G>A)
c.2380+18G>A (n.2380+18G>A)
c.2362+18G>A (n.2362+18G>A)
c.2332+18G>A (n.2332+18G>A)
c.2290+18G>A (n.2290+18G>A)
c.2197+18G>A (n.2197+18G>A)
c.2209+18G>A (n.2209+18G>A)
c.2268+19790G>A (n.2268+19790G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851365A>GCA2627378267OCA2c.2338+17T>C (n.2338+17T>C)
c.2266+17T>C (n.2266+17T>C)
c.2404+17T>C (n.2404+17T>C)
c.2380+17T>C (n.2380+17T>C)
c.2362+17T>C (n.2362+17T>C)
c.2332+17T>C (n.2332+17T>C)
c.2290+17T>C (n.2290+17T>C)
c.2197+17T>C (n.2197+17T>C)
c.2209+17T>C (n.2209+17T>C)
c.2268+19789T>C (n.2268+19789T>C)
gnomAD v4
15g.27851365A>TCA2627378268OCA2c.2338+17T>A (n.2338+17T>A)
c.2266+17T>A (n.2266+17T>A)
c.2404+17T>A (n.2404+17T>A)
c.2380+17T>A (n.2380+17T>A)
c.2362+17T>A (n.2362+17T>A)
c.2332+17T>A (n.2332+17T>A)
c.2290+17T>A (n.2290+17T>A)
c.2197+17T>A (n.2197+17T>A)
c.2209+17T>A (n.2209+17T>A)
c.2268+19789T>A (n.2268+19789T>A)
gnomAD v4
15g.27851366G>ACA7438628OCA2c.2338+16C>T (n.2338+16C>T)
c.2266+16C>T (n.2266+16C>T)
c.2404+16C>T (n.2404+16C>T)
c.2380+16C>T (n.2380+16C>T)
c.2362+16C>T (n.2362+16C>T)
c.2332+16C>T (n.2332+16C>T)
c.2290+16C>T (n.2290+16C>T)
c.2197+16C>T (n.2197+16C>T)
c.2209+16C>T (n.2209+16C>T)
c.2268+19788C>T (n.2268+19788C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851366G=CA2166351972OCA2c.2338+16C= (n.2338+16C=)
c.2266+16C= (n.2266+16C=)
c.2404+16C= (n.2404+16C=)
c.2380+16C= (n.2380+16C=)
c.2362+16C= (n.2362+16C=)
c.2332+16C= (n.2332+16C=)
c.2290+16C= (n.2290+16C=)
c.2197+16C= (n.2197+16C=)
c.2209+16C= (n.2209+16C=)
c.2268+19788C= (n.2268+19788C=)
15g.27851366G>TCA2627378269OCA2c.2338+16C>A (n.2338+16C>A)
c.2266+16C>A (n.2266+16C>A)
c.2404+16C>A (n.2404+16C>A)
c.2380+16C>A (n.2380+16C>A)
c.2362+16C>A (n.2362+16C>A)
c.2332+16C>A (n.2332+16C>A)
c.2290+16C>A (n.2290+16C>A)
c.2197+16C>A (n.2197+16C>A)
c.2209+16C>A (n.2209+16C>A)
c.2268+19788C>A (n.2268+19788C>A)
gnomAD v4
15g.27851368C>ACA2166351973OCA2c.2338+14G>T (n.2338+14G>T)
c.2266+14G>T (n.2266+14G>T)
c.2404+14G>T (n.2404+14G>T)
c.2380+14G>T (n.2380+14G>T)
c.2362+14G>T (n.2362+14G>T)
c.2332+14G>T (n.2332+14G>T)
c.2290+14G>T (n.2290+14G>T)
c.2197+14G>T (n.2197+14G>T)
c.2209+14G>T (n.2209+14G>T)
c.2268+19786G>T (n.2268+19786G>T)
ClinVar dbSNP gnomAD v4
15g.27851368C=CA2166351974OCA2c.2338+14G= (n.2338+14G=)
c.2266+14G= (n.2266+14G=)
c.2404+14G= (n.2404+14G=)
c.2380+14G= (n.2380+14G=)
c.2362+14G= (n.2362+14G=)
c.2332+14G= (n.2332+14G=)
c.2290+14G= (n.2290+14G=)
c.2197+14G= (n.2197+14G=)
c.2209+14G= (n.2209+14G=)
c.2268+19786G= (n.2268+19786G=)
15g.27851369A>GCA2803490097OCA2c.2338+13T>C (n.2338+13T>C)
c.2266+13T>C (n.2266+13T>C)
c.2404+13T>C (n.2404+13T>C)
c.2380+13T>C (n.2380+13T>C)
c.2362+13T>C (n.2362+13T>C)
c.2332+13T>C (n.2332+13T>C)
c.2290+13T>C (n.2290+13T>C)
c.2197+13T>C (n.2197+13T>C)
c.2209+13T>C (n.2209+13T>C)
c.2268+19785T>C (n.2268+19785T>C)
15g.27851369dupCA616702022OCA2c.2338+13dup (n.2338+13dup)
c.2266+13dup (n.2266+13dup)
c.2404+13dup (n.2404+13dup)
c.2380+13dup (n.2380+13dup)
c.2362+13dup (n.2362+13dup)
c.2332+13dup (n.2332+13dup)
c.2290+13dup (n.2290+13dup)
c.2197+13dup (n.2197+13dup)
c.2209+13dup (n.2209+13dup)
c.2268+19785dup (n.2268+19785dup)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.27851370G>ACA2166351976OCA2c.2338+12C>T (n.2338+12C>T)
c.2266+12C>T (n.2266+12C>T)
c.2404+12C>T (n.2404+12C>T)
c.2380+12C>T (n.2380+12C>T)
c.2362+12C>T (n.2362+12C>T)
c.2332+12C>T (n.2332+12C>T)
c.2290+12C>T (n.2290+12C>T)
c.2197+12C>T (n.2197+12C>T)
c.2209+12C>T (n.2209+12C>T)
c.2268+19784C>T (n.2268+19784C>T)
dbSNP gnomAD v4
15g.27851370G=CA2166351975OCA2c.2338+12C= (n.2338+12C=)
c.2266+12C= (n.2266+12C=)
c.2404+12C= (n.2404+12C=)
c.2380+12C= (n.2380+12C=)
c.2362+12C= (n.2362+12C=)
c.2332+12C= (n.2332+12C=)
c.2290+12C= (n.2290+12C=)
c.2197+12C= (n.2197+12C=)
c.2209+12C= (n.2209+12C=)
c.2268+19784C= (n.2268+19784C=)
15g.27851370G>TCA2627378270OCA2c.2338+12C>A (n.2338+12C>A)
c.2266+12C>A (n.2266+12C>A)
c.2404+12C>A (n.2404+12C>A)
c.2380+12C>A (n.2380+12C>A)
c.2362+12C>A (n.2362+12C>A)
c.2332+12C>A (n.2332+12C>A)
c.2290+12C>A (n.2290+12C>A)
c.2197+12C>A (n.2197+12C>A)
c.2209+12C>A (n.2209+12C>A)
c.2268+19784C>A (n.2268+19784C>A)
gnomAD v4
15g.27851371C>TCA2627378271OCA2c.2338+11G>A (n.2338+11G>A)
c.2266+11G>A (n.2266+11G>A)
c.2404+11G>A (n.2404+11G>A)
c.2380+11G>A (n.2380+11G>A)
c.2362+11G>A (n.2362+11G>A)
c.2332+11G>A (n.2332+11G>A)
c.2290+11G>A (n.2290+11G>A)
c.2197+11G>A (n.2197+11G>A)
c.2209+11G>A (n.2209+11G>A)
c.2268+19783G>A (n.2268+19783G>A)
gnomAD v4
15g.27851372A=CA2166351977OCA2c.2338+10T= (n.2338+10T=)
c.2266+10T= (n.2266+10T=)
c.2404+10T= (n.2404+10T=)
c.2380+10T= (n.2380+10T=)
c.2362+10T= (n.2362+10T=)
c.2332+10T= (n.2332+10T=)
c.2290+10T= (n.2290+10T=)
c.2197+10T= (n.2197+10T=)
c.2209+10T= (n.2209+10T=)
c.2268+19782T= (n.2268+19782T=)
15g.27851372A>GCA7438629OCA2c.2338+10T>C (n.2338+10T>C)
c.2266+10T>C (n.2266+10T>C)
c.2404+10T>C (n.2404+10T>C)
c.2380+10T>C (n.2380+10T>C)
c.2362+10T>C (n.2362+10T>C)
c.2332+10T>C (n.2332+10T>C)
c.2290+10T>C (n.2290+10T>C)
c.2197+10T>C (n.2197+10T>C)
c.2209+10T>C (n.2209+10T>C)
c.2268+19782T>C (n.2268+19782T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851373G>ACA7438630OCA2c.2338+9C>T (n.2338+9C>T)
c.2266+9C>T (n.2266+9C>T)
c.2404+9C>T (n.2404+9C>T)
c.2380+9C>T (n.2380+9C>T)
c.2362+9C>T (n.2362+9C>T)
c.2332+9C>T (n.2332+9C>T)
c.2290+9C>T (n.2290+9C>T)
c.2197+9C>T (n.2197+9C>T)
c.2209+9C>T (n.2209+9C>T)
c.2268+19781C>T (n.2268+19781C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851373G=CA2166351978OCA2c.2338+9C= (n.2338+9C=)
c.2266+9C= (n.2266+9C=)
c.2404+9C= (n.2404+9C=)
c.2380+9C= (n.2380+9C=)
c.2362+9C= (n.2362+9C=)
c.2332+9C= (n.2332+9C=)
c.2290+9C= (n.2290+9C=)
c.2197+9C= (n.2197+9C=)
c.2209+9C= (n.2209+9C=)
c.2268+19781C= (n.2268+19781C=)
15g.27851373G>TCA2627378272OCA2c.2338+9C>A (n.2338+9C>A)
c.2266+9C>A (n.2266+9C>A)
c.2404+9C>A (n.2404+9C>A)
c.2380+9C>A (n.2380+9C>A)
c.2362+9C>A (n.2362+9C>A)
c.2332+9C>A (n.2332+9C>A)
c.2290+9C>A (n.2290+9C>A)
c.2197+9C>A (n.2197+9C>A)
c.2209+9C>A (n.2209+9C>A)
c.2268+19781C>A (n.2268+19781C>A)
gnomAD v4
15g.27851374C=CA2166351979OCA2c.2338+8G= (n.2338+8G=)
c.2266+8G= (n.2266+8G=)
c.2404+8G= (n.2404+8G=)
c.2380+8G= (n.2380+8G=)
c.2362+8G= (n.2362+8G=)
c.2332+8G= (n.2332+8G=)
c.2290+8G= (n.2290+8G=)
c.2197+8G= (n.2197+8G=)
c.2209+8G= (n.2209+8G=)
c.2268+19780G= (n.2268+19780G=)
15g.27851374C>TCA7438631OCA2c.2338+8G>A (n.2338+8G>A)
c.2266+8G>A (n.2266+8G>A)
c.2404+8G>A (n.2404+8G>A)
c.2380+8G>A (n.2380+8G>A)
c.2362+8G>A (n.2362+8G>A)
c.2332+8G>A (n.2332+8G>A)
c.2290+8G>A (n.2290+8G>A)
c.2197+8G>A (n.2197+8G>A)
c.2209+8G>A (n.2209+8G>A)
c.2268+19780G>A (n.2268+19780G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851377delCA2627378273OCA2c.2338+8del (n.2338+8del)
c.2266+8del (n.2266+8del)
c.2404+8del (n.2404+8del)
c.2380+8del (n.2380+8del)
c.2362+8del (n.2362+8del)
c.2332+8del (n.2332+8del)
c.2290+8del (n.2290+8del)
c.2197+8del (n.2197+8del)
c.2209+8del (n.2209+8del)
c.2268+19780del (n.2268+19780del)
gnomAD v4
15g.27851376C>ACA7438632OCA2c.2338+6G>T (n.2338+6G>T)
c.2266+6G>T (n.2266+6G>T)
c.2404+6G>T (n.2404+6G>T)
c.2380+6G>T (n.2380+6G>T)
c.2362+6G>T (n.2362+6G>T)
c.2332+6G>T (n.2332+6G>T)
c.2290+6G>T (n.2290+6G>T)
c.2197+6G>T (n.2197+6G>T)
c.2209+6G>T (n.2209+6G>T)
c.2268+19778G>T (n.2268+19778G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851376C=CA2166351980OCA2c.2338+6G= (n.2338+6G=)
c.2266+6G= (n.2266+6G=)
c.2404+6G= (n.2404+6G=)
c.2380+6G= (n.2380+6G=)
c.2362+6G= (n.2362+6G=)
c.2332+6G= (n.2332+6G=)
c.2290+6G= (n.2290+6G=)
c.2197+6G= (n.2197+6G=)
c.2209+6G= (n.2209+6G=)
c.2268+19778G= (n.2268+19778G=)
15g.27851377C>ACA2627378274OCA2c.2338+5G>T (n.2338+5G>T)
c.2266+5G>T (n.2266+5G>T)
c.2404+5G>T (n.2404+5G>T)
c.2380+5G>T (n.2380+5G>T)
c.2362+5G>T (n.2362+5G>T)
c.2332+5G>T (n.2332+5G>T)
c.2290+5G>T (n.2290+5G>T)
c.2197+5G>T (n.2197+5G>T)
c.2209+5G>T (n.2209+5G>T)
c.2268+19777G>T (n.2268+19777G>T)
gnomAD v4
15g.27851378T=CA2166351981OCA2c.2338+4A= (n.2338+4A=)
c.2266+4A= (n.2266+4A=)
c.2404+4A= (n.2404+4A=)
c.2380+4A= (n.2380+4A=)
c.2362+4A= (n.2362+4A=)
c.2332+4A= (n.2332+4A=)
c.2290+4A= (n.2290+4A=)
c.2197+4A= (n.2197+4A=)
c.2209+4A= (n.2209+4A=)
c.2268+19776A= (n.2268+19776A=)
15g.27851379T>CCA2166351983OCA2c.2338+3A>G (n.2338+3A>G)
c.2266+3A>G (n.2266+3A>G)
c.2404+3A>G (n.2404+3A>G)
c.2380+3A>G (n.2380+3A>G)
c.2362+3A>G (n.2362+3A>G)
c.2332+3A>G (n.2332+3A>G)
c.2290+3A>G (n.2290+3A>G)
c.2197+3A>G (n.2197+3A>G)
c.2209+3A>G (n.2209+3A>G)
c.2268+19775A>G (n.2268+19775A>G)
dbSNP gnomAD v4
15g.27851379T=CA2166351982OCA2c.2338+3A= (n.2338+3A=)
c.2266+3A= (n.2266+3A=)
c.2404+3A= (n.2404+3A=)
c.2380+3A= (n.2380+3A=)
c.2362+3A= (n.2362+3A=)
c.2332+3A= (n.2332+3A=)
c.2290+3A= (n.2290+3A=)
c.2197+3A= (n.2197+3A=)
c.2209+3A= (n.2209+3A=)
c.2268+19775A= (n.2268+19775A=)
15g.27851379_27851384dupCA616702029OCA2c.2336_2338+3dup
c.2264_2266+3dup
c.2402_2404+3dup
c.2378_2380+3dup
c.2360_2362+3dup
c.2330_2332+3dup
c.2288_2290+3dup
c.2195_2197+3dup
c.2207_2209+3dup
c.2268+19770_2268+19775dup (n.2268+19770_2268+19775dup)
dbSNP gnomAD v2 gnomAD v4
15g.27851380A=CA2166351984OCA2c.2338+2T= (n.2338+2T=)
c.2266+2T= (n.2266+2T=)
c.2404+2T= (n.2404+2T=)
c.2380+2T= (n.2380+2T=)
c.2362+2T= (n.2362+2T=)
c.2332+2T= (n.2332+2T=)
c.2290+2T= (n.2290+2T=)
c.2197+2T= (n.2197+2T=)
c.2209+2T= (n.2209+2T=)
c.2268+19774T= (n.2268+19774T=)
15g.27851380A>CCA16619914OCA2c.2338+2T>G (n.2338+2T>G)
c.2266+2T>G (n.2266+2T>G)
c.2404+2T>G (n.2404+2T>G)
c.2380+2T>G (n.2380+2T>G)
c.2362+2T>G (n.2362+2T>G)
c.2332+2T>G (n.2332+2T>G)
c.2290+2T>G (n.2290+2T>G)
c.2197+2T>G (n.2197+2T>G)
c.2209+2T>G (n.2209+2T>G)
c.2268+19774T>G (n.2268+19774T>G)
ClinVar dbSNP gnomAD v4
15g.27851380A>GCA391359787OCA2c.2338+2T>C (n.2338+2T>C)
c.2266+2T>C (n.2266+2T>C)
c.2404+2T>C (n.2404+2T>C)
c.2380+2T>C (n.2380+2T>C)
c.2362+2T>C (n.2362+2T>C)
c.2332+2T>C (n.2332+2T>C)
c.2290+2T>C (n.2290+2T>C)
c.2197+2T>C (n.2197+2T>C)
c.2209+2T>C (n.2209+2T>C)
c.2268+19774T>C (n.2268+19774T>C)
15g.27851380A>TCA391359788OCA2c.2338+2T>A (n.2338+2T>A)
c.2266+2T>A (n.2266+2T>A)
c.2404+2T>A (n.2404+2T>A)
c.2380+2T>A (n.2380+2T>A)
c.2362+2T>A (n.2362+2T>A)
c.2332+2T>A (n.2332+2T>A)
c.2290+2T>A (n.2290+2T>A)
c.2197+2T>A (n.2197+2T>A)
c.2209+2T>A (n.2209+2T>A)
c.2268+19774T>A (n.2268+19774T>A)
15g.27851381C>ACA7438633OCA2c.2338+1G>T (n.2338+1G>T)
c.2266+1G>T (n.2266+1G>T)
c.2404+1G>T (n.2404+1G>T)
c.2380+1G>T (n.2380+1G>T)
c.2362+1G>T (n.2362+1G>T)
c.2332+1G>T (n.2332+1G>T)
c.2290+1G>T (n.2290+1G>T)
c.2197+1G>T (n.2197+1G>T)
c.2209+1G>T (n.2209+1G>T)
c.2268+19773G>T (n.2268+19773G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851381C=CA2166351985OCA2c.2338+1G= (n.2338+1G=)
c.2266+1G= (n.2266+1G=)
c.2404+1G= (n.2404+1G=)
c.2380+1G= (n.2380+1G=)
c.2362+1G= (n.2362+1G=)
c.2332+1G= (n.2332+1G=)
c.2290+1G= (n.2290+1G=)
c.2197+1G= (n.2197+1G=)
c.2209+1G= (n.2209+1G=)
c.2268+19773G= (n.2268+19773G=)
15g.27851381C>GCA391359796OCA2c.2338+1G>C (n.2338+1G>C)
c.2266+1G>C (n.2266+1G>C)
c.2404+1G>C (n.2404+1G>C)
c.2380+1G>C (n.2380+1G>C)
c.2362+1G>C (n.2362+1G>C)
c.2332+1G>C (n.2332+1G>C)
c.2290+1G>C (n.2290+1G>C)
c.2197+1G>C (n.2197+1G>C)
c.2209+1G>C (n.2209+1G>C)
c.2268+19773G>C (n.2268+19773G>C)
15g.27851381C>TCA391359799OCA2c.2338+1G>A (n.2338+1G>A)
c.2266+1G>A (n.2266+1G>A)
c.2404+1G>A (n.2404+1G>A)
c.2380+1G>A (n.2380+1G>A)
c.2362+1G>A (n.2362+1G>A)
c.2332+1G>A (n.2332+1G>A)
c.2290+1G>A (n.2290+1G>A)
c.2197+1G>A (n.2197+1G>A)
c.2209+1G>A (n.2209+1G>A)
c.2268+19773G>A (n.2268+19773G>A)
ClinVar
15g.27851382C>ACA391359804OCA2c.2338G>T (p.Gly780Cys)
c.2266G>T (p.Gly756Cys)
c.2404G>T (p.Gly802Cys)
c.2380G>T (p.Gly794Cys)
c.2362G>T (p.Gly788Cys)
c.2332G>T (p.Gly778Cys)
c.2290G>T (p.Gly764Cys)
c.2197G>T (p.Gly733Cys)
c.2209G>T (p.Gly737Cys)
c.2268+19772G>T (n.2268+19772G>T)
15g.27851382C=CA2166351986OCA2c.2338G= (p.Gly780=)
c.2266G= (p.Gly756=)
c.2404G= (p.Gly802=)
c.2380G= (p.Gly794=)
c.2362G= (p.Gly788=)
c.2332G= (p.Gly778=)
c.2290G= (p.Gly764=)
c.2197G= (p.Gly733=)
c.2209G= (p.Gly737=)
c.2268+19772G= (n.2268+19772G=)
15g.27851382C>GCA391359805OCA2c.2338G>C (p.Gly780Arg)
c.2266G>C (p.Gly756Arg)
c.2404G>C (p.Gly802Arg)
c.2380G>C (p.Gly794Arg)
c.2362G>C (p.Gly788Arg)
c.2332G>C (p.Gly778Arg)
c.2290G>C (p.Gly764Arg)
c.2197G>C (p.Gly733Arg)
c.2209G>C (p.Gly737Arg)
c.2268+19772G>C (n.2268+19772G>C)
dbSNP
15g.27851382C>TCA391359811OCA2c.2338G>A (p.Gly780Ser)
c.2266G>A (p.Gly756Ser)
c.2404G>A (p.Gly802Ser)
c.2380G>A (p.Gly794Ser)
c.2362G>A (p.Gly788Ser)
c.2332G>A (p.Gly778Ser)
c.2290G>A (p.Gly764Ser)
c.2197G>A (p.Gly733Ser)
c.2209G>A (p.Gly737Ser)
c.2268+19772G>A (n.2268+19772G>A)
15g.27851383T>ACA488959008OCA2c.2337A>T (p.Gly779=)
c.2265A>T (p.Gly755=)
c.2403A>T (p.Gly801=)
c.2379A>T (p.Gly793=)
c.2361A>T (p.Gly787=)
c.2331A>T (p.Gly777=)
c.2289A>T (p.Gly763=)
c.2196A>T (p.Gly732=)
c.2208A>T (p.Gly736=)
c.2268+19771A>T (n.2268+19771A>T)
15g.27851383T>CCA488959009OCA2c.2337A>G (p.Gly779=)
c.2265A>G (p.Gly755=)
c.2403A>G (p.Gly801=)
c.2379A>G (p.Gly793=)
c.2361A>G (p.Gly787=)
c.2331A>G (p.Gly777=)
c.2289A>G (p.Gly763=)
c.2196A>G (p.Gly732=)
c.2208A>G (p.Gly736=)
c.2268+19771A>G (n.2268+19771A>G)
15g.27851383T>GCA488959010OCA2c.2337A>C (p.Gly779=)
c.2265A>C (p.Gly755=)
c.2403A>C (p.Gly801=)
c.2379A>C (p.Gly793=)
c.2361A>C (p.Gly787=)
c.2331A>C (p.Gly777=)
c.2289A>C (p.Gly763=)
c.2196A>C (p.Gly732=)
c.2208A>C (p.Gly736=)
c.2268+19771A>C (n.2268+19771A>C)
15g.27851383_27851384delinsTCCA2166351987OCA2c.2336_2337delinsGA (p.Gly779=)
c.2264_2265delinsGA (p.Gly755=)
c.2402_2403delinsGA (p.Gly801=)
c.2378_2379delinsGA (p.Gly793=)
c.2360_2361delinsGA (p.Gly787=)
c.2330_2331delinsGA (p.Gly777=)
c.2288_2289delinsGA (p.Gly763=)
c.2195_2196delinsGA (p.Gly732=)
c.2207_2208delinsGA (p.Gly736=)
c.2268+19770_2268+19771delinsGA (n.2268+19770_2268+19771delinsGA)
15g.27851384C>ACA391359816OCA2c.2336G>T (p.Gly779Val)
c.2264G>T (p.Gly755Val)
c.2402G>T (p.Gly801Val)
c.2378G>T (p.Gly793Val)
c.2360G>T (p.Gly787Val)
c.2330G>T (p.Gly777Val)
c.2288G>T (p.Gly763Val)
c.2195G>T (p.Gly732Val)
c.2207G>T (p.Gly736Val)
c.2268+19770G>T (n.2268+19770G>T)
15g.27851384C>GCA391359820OCA2c.2336G>C (p.Gly779Ala)
c.2264G>C (p.Gly755Ala)
c.2402G>C (p.Gly801Ala)
c.2378G>C (p.Gly793Ala)
c.2360G>C (p.Gly787Ala)
c.2330G>C (p.Gly777Ala)
c.2288G>C (p.Gly763Ala)
c.2195G>C (p.Gly732Ala)
c.2207G>C (p.Gly736Ala)
c.2268+19770G>C (n.2268+19770G>C)
15g.27851384C>TCA391359823OCA2c.2336G>A (p.Gly779Glu)
c.2264G>A (p.Gly755Glu)
c.2402G>A (p.Gly801Glu)
c.2378G>A (p.Gly793Glu)
c.2360G>A (p.Gly787Glu)
c.2330G>A (p.Gly777Glu)
c.2288G>A (p.Gly763Glu)
c.2195G>A (p.Gly732Glu)
c.2207G>A (p.Gly736Glu)
c.2268+19770G>A (n.2268+19770G>A)
15g.27851386delCA616702032OCA2c.2336del (p.Gly779GlufsTer6)
c.2264del (p.Gly755GlufsTer6)
c.2402del (p.Gly801GlufsTer6)
c.2378del (p.Gly793GlufsTer6)
c.2360del (p.Gly787GlufsTer6)
c.2330del (p.Gly777GlufsTer6)
c.2288del (p.Gly763GlufsTer6)
c.2195del (p.Gly732GlufsTer6)
c.2207del (p.Gly736GlufsTer6)
c.2268+19770del (n.2268+19770del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27851385C>ACA391359832OCA2c.2335G>T (p.Gly779Ter)
c.2263G>T (p.Gly755Ter)
c.2401G>T (p.Gly801Ter)
c.2377G>T (p.Gly793Ter)
c.2359G>T (p.Gly787Ter)
c.2329G>T (p.Gly777Ter)
c.2287G>T (p.Gly763Ter)
c.2194G>T (p.Gly732Ter)
c.2206G>T (p.Gly736Ter)
c.2268+19769G>T (n.2268+19769G>T)
15g.27851385C>GCA391359827OCA2c.2335G>C (p.Gly779Arg)
c.2263G>C (p.Gly755Arg)
c.2401G>C (p.Gly801Arg)
c.2377G>C (p.Gly793Arg)
c.2359G>C (p.Gly787Arg)
c.2329G>C (p.Gly777Arg)
c.2287G>C (p.Gly763Arg)
c.2194G>C (p.Gly732Arg)
c.2206G>C (p.Gly736Arg)
c.2268+19769G>C (n.2268+19769G>C)
15g.27851385C>TCA391359825OCA2c.2335G>A (p.Gly779Arg)
c.2263G>A (p.Gly755Arg)
c.2401G>A (p.Gly801Arg)
c.2377G>A (p.Gly793Arg)
c.2359G>A (p.Gly787Arg)
c.2329G>A (p.Gly777Arg)
c.2287G>A (p.Gly763Arg)
c.2194G>A (p.Gly732Arg)
c.2206G>A (p.Gly736Arg)
c.2268+19769G>A (n.2268+19769G>A)
ClinVar dbSNP
15g.27851386C>ACA488959014OCA2c.2334G>T (p.Leu778=)
c.2262G>T (p.Leu754=)
c.2400G>T (p.Leu800=)
c.2376G>T (p.Leu792=)
c.2358G>T (p.Leu786=)
c.2328G>T (p.Leu776=)
c.2286G>T (p.Leu762=)
c.2193G>T (p.Leu731=)
c.2205G>T (p.Leu735=)
c.2268+19768G>T (n.2268+19768G>T)
COSMIC
15g.27851386C>GCA488959015OCA2c.2334G>C (p.Leu778=)
c.2262G>C (p.Leu754=)
c.2400G>C (p.Leu800=)
c.2376G>C (p.Leu792=)
c.2358G>C (p.Leu786=)
c.2328G>C (p.Leu776=)
c.2286G>C (p.Leu762=)
c.2193G>C (p.Leu731=)
c.2205G>C (p.Leu735=)
c.2268+19768G>C (n.2268+19768G>C)
15g.27851386C>TCA488959016OCA2c.2334G>A (p.Leu778=)
c.2262G>A (p.Leu754=)
c.2400G>A (p.Leu800=)
c.2376G>A (p.Leu792=)
c.2358G>A (p.Leu786=)
c.2328G>A (p.Leu776=)
c.2286G>A (p.Leu762=)
c.2193G>A (p.Leu731=)
c.2205G>A (p.Leu735=)
c.2268+19768G>A (n.2268+19768G>A)
COSMIC
15g.27851387A>CCA391359837OCA2c.2333T>G (p.Leu778Arg)
c.2261T>G (p.Leu754Arg)
c.2399T>G (p.Leu800Arg)
c.2375T>G (p.Leu792Arg)
c.2357T>G (p.Leu786Arg)
c.2327T>G (p.Leu776Arg)
c.2285T>G (p.Leu762Arg)
c.2192T>G (p.Leu731Arg)
c.2204T>G (p.Leu735Arg)
c.2268+19767T>G (n.2268+19767T>G)
15g.27851387A>GCA391359840OCA2c.2333T>C (p.Leu778Pro)
c.2261T>C (p.Leu754Pro)
c.2399T>C (p.Leu800Pro)
c.2375T>C (p.Leu792Pro)
c.2357T>C (p.Leu786Pro)
c.2327T>C (p.Leu776Pro)
c.2285T>C (p.Leu762Pro)
c.2192T>C (p.Leu731Pro)
c.2204T>C (p.Leu735Pro)
c.2268+19767T>C (n.2268+19767T>C)
15g.27851387A>TCA391359844OCA2c.2333T>A (p.Leu778Gln)
c.2261T>A (p.Leu754Gln)
c.2399T>A (p.Leu800Gln)
c.2375T>A (p.Leu792Gln)
c.2357T>A (p.Leu786Gln)
c.2327T>A (p.Leu776Gln)
c.2285T>A (p.Leu762Gln)
c.2192T>A (p.Leu731Gln)
c.2204T>A (p.Leu735Gln)
c.2268+19767T>A (n.2268+19767T>A)
15g.27851388G>ACA488959017OCA2c.2332C>T (p.Leu778=)
c.2260C>T (p.Leu754=)
c.2398C>T (p.Leu800=)
c.2374C>T (p.Leu792=)
c.2356C>T (p.Leu786=)
c.2326C>T (p.Leu776=)
c.2284C>T (p.Leu762=)
c.2191C>T (p.Leu731=)
c.2203C>T (p.Leu735=)
c.2268+19766C>T (n.2268+19766C>T)
15g.27851388G>CCA391359848OCA2c.2332C>G (p.Leu778Val)
c.2260C>G (p.Leu754Val)
c.2398C>G (p.Leu800Val)
c.2374C>G (p.Leu792Val)
c.2356C>G (p.Leu786Val)
c.2326C>G (p.Leu776Val)
c.2284C>G (p.Leu762Val)
c.2191C>G (p.Leu731Val)
c.2203C>G (p.Leu735Val)
c.2268+19766C>G (n.2268+19766C>G)
15g.27851388G>TCA391359852OCA2c.2332C>A (p.Leu778Met)
c.2260C>A (p.Leu754Met)
c.2398C>A (p.Leu800Met)
c.2374C>A (p.Leu792Met)
c.2356C>A (p.Leu786Met)
c.2326C>A (p.Leu776Met)
c.2284C>A (p.Leu762Met)
c.2191C>A (p.Leu731Met)
c.2203C>A (p.Leu735Met)
c.2268+19766C>A (n.2268+19766C>A)
15g.27851389G>ACA488959018OCA2c.2331C>T (p.Cys777=)
c.2259C>T (p.Cys753=)
c.2397C>T (p.Cys799=)
c.2373C>T (p.Cys791=)
c.2355C>T (p.Cys785=)
c.2325C>T (p.Cys775=)
c.2283C>T (p.Cys761=)
c.2190C>T (p.Cys730=)
c.2202C>T (p.Cys734=)
c.2268+19765C>T (n.2268+19765C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.27851389G>CCA391359853OCA2c.2331C>G (p.Cys777Trp)
c.2259C>G (p.Cys753Trp)
c.2397C>G (p.Cys799Trp)
c.2373C>G (p.Cys791Trp)
c.2355C>G (p.Cys785Trp)
c.2325C>G (p.Cys775Trp)
c.2283C>G (p.Cys761Trp)
c.2190C>G (p.Cys730Trp)
c.2202C>G (p.Cys734Trp)
c.2268+19765C>G (n.2268+19765C>G)
15g.27851389G=CA2166351988OCA2c.2331C= (p.Cys777=)
c.2259C= (p.Cys753=)
c.2397C= (p.Cys799=)
c.2373C= (p.Cys791=)
c.2355C= (p.Cys785=)
c.2325C= (p.Cys775=)
c.2283C= (p.Cys761=)
c.2190C= (p.Cys730=)
c.2202C= (p.Cys734=)
c.2268+19765C= (n.2268+19765C=)
15g.27851389G>TCA391359854OCA2c.2331C>A (p.Cys777Ter)
c.2259C>A (p.Cys753Ter)
c.2397C>A (p.Cys799Ter)
c.2373C>A (p.Cys791Ter)
c.2355C>A (p.Cys785Ter)
c.2325C>A (p.Cys775Ter)
c.2283C>A (p.Cys761Ter)
c.2190C>A (p.Cys730Ter)
c.2202C>A (p.Cys734Ter)
c.2268+19765C>A (n.2268+19765C>A)
15g.27851390C>ACA391359857OCA2c.2330G>T (p.Cys777Phe)
c.2258G>T (p.Cys753Phe)
c.2396G>T (p.Cys799Phe)
c.2372G>T (p.Cys791Phe)
c.2354G>T (p.Cys785Phe)
c.2324G>T (p.Cys775Phe)
c.2282G>T (p.Cys761Phe)
c.2189G>T (p.Cys730Phe)
c.2201G>T (p.Cys734Phe)
c.2268+19764G>T (n.2268+19764G>T)
15g.27851390C=CA2166351989OCA2c.2330G= (p.Cys777=)
c.2258G= (p.Cys753=)
c.2396G= (p.Cys799=)
c.2372G= (p.Cys791=)
c.2354G= (p.Cys785=)
c.2324G= (p.Cys775=)
c.2282G= (p.Cys761=)
c.2189G= (p.Cys730=)
c.2201G= (p.Cys734=)
c.2268+19764G= (n.2268+19764G=)
15g.27851390C>GCA391359860OCA2c.2330G>C (p.Cys777Ser)
c.2258G>C (p.Cys753Ser)
c.2396G>C (p.Cys799Ser)
c.2372G>C (p.Cys791Ser)
c.2354G>C (p.Cys785Ser)
c.2324G>C (p.Cys775Ser)
c.2282G>C (p.Cys761Ser)
c.2189G>C (p.Cys730Ser)
c.2201G>C (p.Cys734Ser)
c.2268+19764G>C (n.2268+19764G>C)
15g.27851390C>TCA7438634OCA2c.2330G>A (p.Cys777Tyr)
c.2258G>A (p.Cys753Tyr)
c.2396G>A (p.Cys799Tyr)
c.2372G>A (p.Cys791Tyr)
c.2354G>A (p.Cys785Tyr)
c.2324G>A (p.Cys775Tyr)
c.2282G>A (p.Cys761Tyr)
c.2189G>A (p.Cys730Tyr)
c.2201G>A (p.Cys734Tyr)
c.2268+19764G>A (n.2268+19764G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851391A>CCA391359868OCA2c.2329T>G (p.Cys777Gly)
c.2257T>G (p.Cys753Gly)
c.2395T>G (p.Cys799Gly)
c.2371T>G (p.Cys791Gly)
c.2353T>G (p.Cys785Gly)
c.2323T>G (p.Cys775Gly)
c.2281T>G (p.Cys761Gly)
c.2188T>G (p.Cys730Gly)
c.2200T>G (p.Cys734Gly)
c.2268+19763T>G (n.2268+19763T>G)
15g.27851391A>GCA391359872OCA2c.2329T>C (p.Cys777Arg)
c.2257T>C (p.Cys753Arg)
c.2395T>C (p.Cys799Arg)
c.2371T>C (p.Cys791Arg)
c.2353T>C (p.Cys785Arg)
c.2323T>C (p.Cys775Arg)
c.2281T>C (p.Cys761Arg)
c.2188T>C (p.Cys730Arg)
c.2200T>C (p.Cys734Arg)
c.2268+19763T>C (n.2268+19763T>C)
15g.27851391A>TCA391359876OCA2c.2329T>A (p.Cys777Ser)
c.2257T>A (p.Cys753Ser)
c.2395T>A (p.Cys799Ser)
c.2371T>A (p.Cys791Ser)
c.2353T>A (p.Cys785Ser)
c.2323T>A (p.Cys775Ser)
c.2281T>A (p.Cys761Ser)
c.2188T>A (p.Cys730Ser)
c.2200T>A (p.Cys734Ser)
c.2268+19763T>A (n.2268+19763T>A)
15g.27851392A=CA2166351990OCA2c.2328T= (p.Ala776=)
c.2256T= (p.Ala752=)
c.2394T= (p.Ala798=)
c.2370T= (p.Ala790=)
c.2352T= (p.Ala784=)
c.2322T= (p.Ala774=)
c.2280T= (p.Ala760=)
c.2187T= (p.Ala729=)
c.2199T= (p.Ala733=)
c.2268+19762T= (n.2268+19762T=)
15g.27851392A>CCA488959020OCA2c.2328T>G (p.Ala776=)
c.2256T>G (p.Ala752=)
c.2394T>G (p.Ala798=)
c.2370T>G (p.Ala790=)
c.2352T>G (p.Ala784=)
c.2322T>G (p.Ala774=)
c.2280T>G (p.Ala760=)
c.2187T>G (p.Ala729=)
c.2199T>G (p.Ala733=)
c.2268+19762T>G (n.2268+19762T>G)
dbSNP
15g.27851392A>GCA201867OCA2c.2328T>C (p.Ala776=)
c.2256T>C (p.Ala752=)
c.2394T>C (p.Ala798=)
c.2370T>C (p.Ala790=)
c.2352T>C (p.Ala784=)
c.2322T>C (p.Ala774=)
c.2280T>C (p.Ala760=)
c.2187T>C (p.Ala729=)
c.2199T>C (p.Ala733=)
c.2268+19762T>C (n.2268+19762T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851392A>TCA488959019OCA2c.2328T>A (p.Ala776=)
c.2256T>A (p.Ala752=)
c.2394T>A (p.Ala798=)
c.2370T>A (p.Ala790=)
c.2352T>A (p.Ala784=)
c.2322T>A (p.Ala774=)
c.2280T>A (p.Ala760=)
c.2187T>A (p.Ala729=)
c.2199T>A (p.Ala733=)
c.2268+19762T>A (n.2268+19762T>A)
gnomAD v4
15g.27851393G>ACA7438635OCA2c.2327C>T (p.Ala776Val)
c.2255C>T (p.Ala752Val)
c.2393C>T (p.Ala798Val)
c.2369C>T (p.Ala790Val)
c.2351C>T (p.Ala784Val)
c.2321C>T (p.Ala774Val)
c.2279C>T (p.Ala760Val)
c.2186C>T (p.Ala729Val)
c.2198C>T (p.Ala733Val)
c.2268+19761C>T (n.2268+19761C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851393G>CCA391359896OCA2c.2327C>G (p.Ala776Gly)
c.2255C>G (p.Ala752Gly)
c.2393C>G (p.Ala798Gly)
c.2369C>G (p.Ala790Gly)
c.2351C>G (p.Ala784Gly)
c.2321C>G (p.Ala774Gly)
c.2279C>G (p.Ala760Gly)
c.2186C>G (p.Ala729Gly)
c.2198C>G (p.Ala733Gly)
c.2268+19761C>G (n.2268+19761C>G)
COSMIC
15g.27851393G=CA2166351991OCA2c.2327C= (p.Ala776=)
c.2255C= (p.Ala752=)
c.2393C= (p.Ala798=)
c.2369C= (p.Ala790=)
c.2351C= (p.Ala784=)
c.2321C= (p.Ala774=)
c.2279C= (p.Ala760=)
c.2186C= (p.Ala729=)
c.2198C= (p.Ala733=)
c.2268+19761C= (n.2268+19761C=)
15g.27851393G>TCA391359887OCA2c.2327C>A (p.Ala776Asp)
c.2255C>A (p.Ala752Asp)
c.2393C>A (p.Ala798Asp)
c.2369C>A (p.Ala790Asp)
c.2351C>A (p.Ala784Asp)
c.2321C>A (p.Ala774Asp)
c.2279C>A (p.Ala760Asp)
c.2186C>A (p.Ala729Asp)
c.2198C>A (p.Ala733Asp)
c.2268+19761C>A (n.2268+19761C>A)
ClinVar
15g.27851394C>ACA391359899OCA2c.2326G>T (p.Ala776Ser)
c.2254G>T (p.Ala752Ser)
c.2392G>T (p.Ala798Ser)
c.2368G>T (p.Ala790Ser)
c.2350G>T (p.Ala784Ser)
c.2320G>T (p.Ala774Ser)
c.2278G>T (p.Ala760Ser)
c.2185G>T (p.Ala729Ser)
c.2197G>T (p.Ala733Ser)
c.2268+19760G>T (n.2268+19760G>T)
15g.27851394C>GCA391359900OCA2c.2326G>C (p.Ala776Pro)
c.2254G>C (p.Ala752Pro)
c.2392G>C (p.Ala798Pro)
c.2368G>C (p.Ala790Pro)
c.2350G>C (p.Ala784Pro)
c.2320G>C (p.Ala774Pro)
c.2278G>C (p.Ala760Pro)
c.2185G>C (p.Ala729Pro)
c.2197G>C (p.Ala733Pro)
c.2268+19760G>C (n.2268+19760G>C)
15g.27851394C>TCA391359902OCA2c.2326G>A (p.Ala776Thr)
c.2254G>A (p.Ala752Thr)
c.2392G>A (p.Ala798Thr)
c.2368G>A (p.Ala790Thr)
c.2350G>A (p.Ala784Thr)
c.2320G>A (p.Ala774Thr)
c.2278G>A (p.Ala760Thr)
c.2185G>A (p.Ala729Thr)
c.2197G>A (p.Ala733Thr)
c.2268+19760G>A (n.2268+19760G>A)
15g.27851395A>CCA488959026OCA2c.2325T>G (p.Gly775=)
c.2253T>G (p.Gly751=)
c.2391T>G (p.Gly797=)
c.2367T>G (p.Gly789=)
c.2349T>G (p.Gly783=)
c.2319T>G (p.Gly773=)
c.2277T>G (p.Gly759=)
c.2184T>G (p.Gly728=)
c.2196T>G (p.Gly732=)
c.2268+19759T>G (n.2268+19759T>G)
15g.27851395A>GCA488959024OCA2c.2325T>C (p.Gly775=)
c.2253T>C (p.Gly751=)
c.2391T>C (p.Gly797=)
c.2367T>C (p.Gly789=)
c.2349T>C (p.Gly783=)
c.2319T>C (p.Gly773=)
c.2277T>C (p.Gly759=)
c.2184T>C (p.Gly728=)
c.2196T>C (p.Gly732=)
c.2268+19759T>C (n.2268+19759T>C)
15g.27851395A>TCA488959022OCA2c.2325T>A (p.Gly775=)
c.2253T>A (p.Gly751=)
c.2391T>A (p.Gly797=)
c.2367T>A (p.Gly789=)
c.2349T>A (p.Gly783=)
c.2319T>A (p.Gly773=)
c.2277T>A (p.Gly759=)
c.2184T>A (p.Gly728=)
c.2196T>A (p.Gly732=)
c.2268+19759T>A (n.2268+19759T>A)
15g.27851396C>ACA391359907OCA2c.2324G>T (p.Gly775Val)
c.2252G>T (p.Gly751Val)
c.2390G>T (p.Gly797Val)
c.2366G>T (p.Gly789Val)
c.2348G>T (p.Gly783Val)
c.2318G>T (p.Gly773Val)
c.2276G>T (p.Gly759Val)
c.2183G>T (p.Gly728Val)
c.2195G>T (p.Gly732Val)
c.2268+19758G>T (n.2268+19758G>T)
15g.27851396C=CA2166351992OCA2c.2324G= (p.Gly775=)
c.2252G= (p.Gly751=)
c.2390G= (p.Gly797=)
c.2366G= (p.Gly789=)
c.2348G= (p.Gly783=)
c.2318G= (p.Gly773=)
c.2276G= (p.Gly759=)
c.2183G= (p.Gly728=)
c.2195G= (p.Gly732=)
c.2268+19758G= (n.2268+19758G=)
15g.27851396C>GCA391359910OCA2c.2324G>C (p.Gly775Ala)
c.2252G>C (p.Gly751Ala)
c.2390G>C (p.Gly797Ala)
c.2366G>C (p.Gly789Ala)
c.2348G>C (p.Gly783Ala)
c.2318G>C (p.Gly773Ala)
c.2276G>C (p.Gly759Ala)
c.2183G>C (p.Gly728Ala)
c.2195G>C (p.Gly732Ala)
c.2268+19758G>C (n.2268+19758G>C)
15g.27851396C>TCA267845036OCA2c.2324G>A (p.Gly775Asp)
c.2252G>A (p.Gly751Asp)
c.2390G>A (p.Gly797Asp)
c.2366G>A (p.Gly789Asp)
c.2348G>A (p.Gly783Asp)
c.2318G>A (p.Gly773Asp)
c.2276G>A (p.Gly759Asp)
c.2183G>A (p.Gly728Asp)
c.2195G>A (p.Gly732Asp)
c.2268+19758G>A (n.2268+19758G>A)
ClinVar dbSNP
15g.27851397C>ACA391359920OCA2c.2323G>T (p.Gly775Cys)
c.2251G>T (p.Gly751Cys)
c.2389G>T (p.Gly797Cys)
c.2365G>T (p.Gly789Cys)
c.2347G>T (p.Gly783Cys)
c.2317G>T (p.Gly773Cys)
c.2275G>T (p.Gly759Cys)
c.2182G>T (p.Gly728Cys)
c.2194G>T (p.Gly732Cys)
c.2268+19757G>T (n.2268+19757G>T)
15g.27851397C=CA2166351993OCA2c.2323G= (p.Gly775=)
c.2251G= (p.Gly751=)
c.2389G= (p.Gly797=)
c.2365G= (p.Gly789=)
c.2347G= (p.Gly783=)
c.2317G= (p.Gly773=)
c.2275G= (p.Gly759=)
c.2182G= (p.Gly728=)
c.2194G= (p.Gly732=)
c.2268+19757G= (n.2268+19757G=)
15g.27851397C>GCA391359924OCA2c.2323G>C (p.Gly775Arg)
c.2251G>C (p.Gly751Arg)
c.2389G>C (p.Gly797Arg)
c.2365G>C (p.Gly789Arg)
c.2347G>C (p.Gly783Arg)
c.2317G>C (p.Gly773Arg)
c.2275G>C (p.Gly759Arg)
c.2182G>C (p.Gly728Arg)
c.2194G>C (p.Gly732Arg)
c.2268+19757G>C (n.2268+19757G>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.27851397C>TCA7438636OCA2c.2323G>A (p.Gly775Ser)
c.2251G>A (p.Gly751Ser)
c.2389G>A (p.Gly797Ser)
c.2365G>A (p.Gly789Ser)
c.2347G>A (p.Gly783Ser)
c.2317G>A (p.Gly773Ser)
c.2275G>A (p.Gly759Ser)
c.2182G>A (p.Gly728Ser)
c.2194G>A (p.Gly732Ser)
c.2268+19757G>A (n.2268+19757G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851398G>ACA7438637OCA2c.2322C>T (p.Phe774=)
c.2250C>T (p.Phe750=)
c.2388C>T (p.Phe796=)
c.2364C>T (p.Phe788=)
c.2346C>T (p.Phe782=)
c.2316C>T (p.Phe772=)
c.2274C>T (p.Phe758=)
c.2181C>T (p.Phe727=)
c.2193C>T (p.Phe731=)
c.2268+19756C>T (n.2268+19756C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851398G>CCA391359935OCA2c.2322C>G (p.Phe774Leu)
c.2250C>G (p.Phe750Leu)
c.2388C>G (p.Phe796Leu)
c.2364C>G (p.Phe788Leu)
c.2346C>G (p.Phe782Leu)
c.2316C>G (p.Phe772Leu)
c.2274C>G (p.Phe758Leu)
c.2181C>G (p.Phe727Leu)
c.2193C>G (p.Phe731Leu)
c.2268+19756C>G (n.2268+19756C>G)
15g.27851398G=CA2166351994OCA2c.2322C= (p.Phe774=)
c.2250C= (p.Phe750=)
c.2388C= (p.Phe796=)
c.2364C= (p.Phe788=)
c.2346C= (p.Phe782=)
c.2316C= (p.Phe772=)
c.2274C= (p.Phe758=)
c.2181C= (p.Phe727=)
c.2193C= (p.Phe731=)
c.2268+19756C= (n.2268+19756C=)
15g.27851398G>TCA7438638OCA2c.2322C>A (p.Phe774Leu)
c.2250C>A (p.Phe750Leu)
c.2388C>A (p.Phe796Leu)
c.2364C>A (p.Phe788Leu)
c.2346C>A (p.Phe782Leu)
c.2316C>A (p.Phe772Leu)
c.2274C>A (p.Phe758Leu)
c.2181C>A (p.Phe727Leu)
c.2193C>A (p.Phe731Leu)
c.2268+19756C>A (n.2268+19756C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851399A>CCA391359953OCA2c.2321T>G (p.Phe774Cys)
c.2249T>G (p.Phe750Cys)
c.2387T>G (p.Phe796Cys)
c.2363T>G (p.Phe788Cys)
c.2345T>G (p.Phe782Cys)
c.2315T>G (p.Phe772Cys)
c.2273T>G (p.Phe758Cys)
c.2180T>G (p.Phe727Cys)
c.2192T>G (p.Phe731Cys)
c.2268+19755T>G (n.2268+19755T>G)
15g.27851399A>GCA391359948OCA2c.2321T>C (p.Phe774Ser)
c.2249T>C (p.Phe750Ser)
c.2387T>C (p.Phe796Ser)
c.2363T>C (p.Phe788Ser)
c.2345T>C (p.Phe782Ser)
c.2315T>C (p.Phe772Ser)
c.2273T>C (p.Phe758Ser)
c.2180T>C (p.Phe727Ser)
c.2192T>C (p.Phe731Ser)
c.2268+19755T>C (n.2268+19755T>C)
15g.27851399A>TCA391359944OCA2c.2321T>A (p.Phe774Tyr)
c.2249T>A (p.Phe750Tyr)
c.2387T>A (p.Phe796Tyr)
c.2363T>A (p.Phe788Tyr)
c.2345T>A (p.Phe782Tyr)
c.2315T>A (p.Phe772Tyr)
c.2273T>A (p.Phe758Tyr)
c.2180T>A (p.Phe727Tyr)
c.2192T>A (p.Phe731Tyr)
c.2268+19755T>A (n.2268+19755T>A)
15g.27851400A>CCA391359957OCA2c.2320T>G (p.Phe774Val)
c.2248T>G (p.Phe750Val)
c.2386T>G (p.Phe796Val)
c.2362T>G (p.Phe788Val)
c.2344T>G (p.Phe782Val)
c.2314T>G (p.Phe772Val)
c.2272T>G (p.Phe758Val)
c.2179T>G (p.Phe727Val)
c.2191T>G (p.Phe731Val)
c.2268+19754T>G (n.2268+19754T>G)
15g.27851400A>GCA391359961OCA2c.2320T>C (p.Phe774Leu)
c.2248T>C (p.Phe750Leu)
c.2386T>C (p.Phe796Leu)
c.2362T>C (p.Phe788Leu)
c.2344T>C (p.Phe782Leu)
c.2314T>C (p.Phe772Leu)
c.2272T>C (p.Phe758Leu)
c.2179T>C (p.Phe727Leu)
c.2191T>C (p.Phe731Leu)
c.2268+19754T>C (n.2268+19754T>C)
15g.27851400A>TCA391359962OCA2c.2320T>A (p.Phe774Ile)
c.2248T>A (p.Phe750Ile)
c.2386T>A (p.Phe796Ile)
c.2362T>A (p.Phe788Ile)
c.2344T>A (p.Phe782Ile)
c.2314T>A (p.Phe772Ile)
c.2272T>A (p.Phe758Ile)
c.2179T>A (p.Phe727Ile)
c.2191T>A (p.Phe731Ile)
c.2268+19754T>A (n.2268+19754T>A)
15g.27851401G>ACA488959030OCA2c.2319C>T (p.Ala773=)
c.2247C>T (p.Ala749=)
c.2385C>T (p.Ala795=)
c.2361C>T (p.Ala787=)
c.2343C>T (p.Ala781=)
c.2313C>T (p.Ala771=)
c.2271C>T (p.Ala757=)
c.2178C>T (p.Ala726=)
c.2190C>T (p.Ala730=)
c.2268+19753C>T (n.2268+19753C>T)
15g.27851401G>CCA488959031OCA2c.2319C>G (p.Ala773=)
c.2247C>G (p.Ala749=)
c.2385C>G (p.Ala795=)
c.2361C>G (p.Ala787=)
c.2343C>G (p.Ala781=)
c.2313C>G (p.Ala771=)
c.2271C>G (p.Ala757=)
c.2178C>G (p.Ala726=)
c.2190C>G (p.Ala730=)
c.2268+19753C>G (n.2268+19753C>G)
gnomAD v4
15g.27851401G>TCA488959033OCA2c.2319C>A (p.Ala773=)
c.2247C>A (p.Ala749=)
c.2385C>A (p.Ala795=)
c.2361C>A (p.Ala787=)
c.2343C>A (p.Ala781=)
c.2313C>A (p.Ala771=)
c.2271C>A (p.Ala757=)
c.2178C>A (p.Ala726=)
c.2190C>A (p.Ala730=)
c.2268+19753C>A (n.2268+19753C>A)
15g.27851402G>ACA391359963OCA2c.2318C>T (p.Ala773Val)
c.2246C>T (p.Ala749Val)
c.2384C>T (p.Ala795Val)
c.2360C>T (p.Ala787Val)
c.2342C>T (p.Ala781Val)
c.2312C>T (p.Ala771Val)
c.2270C>T (p.Ala757Val)
c.2177C>T (p.Ala726Val)
c.2189C>T (p.Ala730Val)
c.2268+19752C>T (n.2268+19752C>T)
15g.27851402G>CCA391359965OCA2c.2318C>G (p.Ala773Gly)
c.2246C>G (p.Ala749Gly)
c.2384C>G (p.Ala795Gly)
c.2360C>G (p.Ala787Gly)
c.2342C>G (p.Ala781Gly)
c.2312C>G (p.Ala771Gly)
c.2270C>G (p.Ala757Gly)
c.2177C>G (p.Ala726Gly)
c.2189C>G (p.Ala730Gly)
c.2268+19752C>G (n.2268+19752C>G)
dbSNP gnomAD v2 gnomAD v4
15g.27851402G=CA2166351995OCA2c.2318C= (p.Ala773=)
c.2246C= (p.Ala749=)
c.2384C= (p.Ala795=)
c.2360C= (p.Ala787=)
c.2342C= (p.Ala781=)
c.2312C= (p.Ala771=)
c.2270C= (p.Ala757=)
c.2177C= (p.Ala726=)
c.2189C= (p.Ala730=)
c.2268+19752C= (n.2268+19752C=)
15g.27851402G>TCA391359968OCA2c.2318C>A (p.Ala773Asp)
c.2246C>A (p.Ala749Asp)
c.2384C>A (p.Ala795Asp)
c.2360C>A (p.Ala787Asp)
c.2342C>A (p.Ala781Asp)
c.2312C>A (p.Ala771Asp)
c.2270C>A (p.Ala757Asp)
c.2177C>A (p.Ala726Asp)
c.2189C>A (p.Ala730Asp)
c.2268+19752C>A (n.2268+19752C>A)
15g.27851403C>ACA391359973OCA2c.2317G>T (p.Ala773Ser)
c.2245G>T (p.Ala749Ser)
c.2383G>T (p.Ala795Ser)
c.2359G>T (p.Ala787Ser)
c.2341G>T (p.Ala781Ser)
c.2311G>T (p.Ala771Ser)
c.2269G>T (p.Ala757Ser)
c.2176G>T (p.Ala726Ser)
c.2188G>T (p.Ala730Ser)
c.2268+19751G>T (n.2268+19751G>T)
COSMIC
15g.27851403C=CA2166351996OCA2c.2317G= (p.Ala773=)
c.2245G= (p.Ala749=)
c.2383G= (p.Ala795=)
c.2359G= (p.Ala787=)
c.2341G= (p.Ala781=)
c.2311G= (p.Ala771=)
c.2269G= (p.Ala757=)
c.2176G= (p.Ala726=)
c.2188G= (p.Ala730=)
c.2268+19751G= (n.2268+19751G=)
15g.27851403C>GCA391359976OCA2c.2317G>C (p.Ala773Pro)
c.2245G>C (p.Ala749Pro)
c.2383G>C (p.Ala795Pro)
c.2359G>C (p.Ala787Pro)
c.2341G>C (p.Ala781Pro)
c.2311G>C (p.Ala771Pro)
c.2269G>C (p.Ala757Pro)
c.2176G>C (p.Ala726Pro)
c.2188G>C (p.Ala730Pro)
c.2268+19751G>C (n.2268+19751G>C)
15g.27851403C>TCA391359980OCA2c.2317G>A (p.Ala773Thr)
c.2245G>A (p.Ala749Thr)
c.2383G>A (p.Ala795Thr)
c.2359G>A (p.Ala787Thr)
c.2341G>A (p.Ala781Thr)
c.2311G>A (p.Ala771Thr)
c.2269G>A (p.Ala757Thr)
c.2176G>A (p.Ala726Thr)
c.2188G>A (p.Ala730Thr)
c.2268+19751G>A (n.2268+19751G>A)
dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.27851404delCA2697554281OCA2c.2317del (p.Ala773ProfsTer12)
c.2245del (p.Ala749ProfsTer12)
c.2383del (p.Ala795ProfsTer12)
c.2359del (p.Ala787ProfsTer12)
c.2341del (p.Ala781ProfsTer12)
c.2311del (p.Ala771ProfsTer12)
c.2269del (p.Ala757ProfsTer12)
c.2176del (p.Ala726ProfsTer12)
c.2188del (p.Ala730ProfsTer12)
c.2268+19751del (n.2268+19751del)
ClinVar
15g.27851404C>ACA488959036OCA2c.2316G>T (p.Leu772=)
c.2244G>T (p.Leu748=)
c.2382G>T (p.Leu794=)
c.2358G>T (p.Leu786=)
c.2340G>T (p.Leu780=)
c.2310G>T (p.Leu770=)
c.2268G>T (p.Leu756=)
c.2175G>T (p.Leu725=)
c.2187G>T (p.Leu729=)
c.2268+19750G>T (n.2268+19750G>T)
15g.27851404C>GCA488959037OCA2c.2316G>C (p.Leu772=)
c.2244G>C (p.Leu748=)
c.2382G>C (p.Leu794=)
c.2358G>C (p.Leu786=)
c.2340G>C (p.Leu780=)
c.2310G>C (p.Leu770=)
c.2268G>C (p.Leu756=)
c.2175G>C (p.Leu725=)
c.2187G>C (p.Leu729=)
c.2268+19750G>C (n.2268+19750G>C)
gnomAD v4
15g.27851404C>TCA488959039OCA2c.2316G>A (p.Leu772=)
c.2244G>A (p.Leu748=)
c.2382G>A (p.Leu794=)
c.2358G>A (p.Leu786=)
c.2340G>A (p.Leu780=)
c.2310G>A (p.Leu770=)
c.2268G>A (p.Leu756=)
c.2175G>A (p.Leu725=)
c.2187G>A (p.Leu729=)
c.2268+19750G>A (n.2268+19750G>A)
15g.27851405A>CCA391359985OCA2c.2315T>G (p.Leu772Arg)
c.2243T>G (p.Leu748Arg)
c.2381T>G (p.Leu794Arg)
c.2357T>G (p.Leu786Arg)
c.2339T>G (p.Leu780Arg)
c.2309T>G (p.Leu770Arg)
c.2267T>G (p.Leu756Arg)
c.2174T>G (p.Leu725Arg)
c.2186T>G (p.Leu729Arg)
c.2268+19749T>G (n.2268+19749T>G)
15g.27851405A>GCA391359988OCA2c.2315T>C (p.Leu772Pro)
c.2243T>C (p.Leu748Pro)
c.2381T>C (p.Leu794Pro)
c.2357T>C (p.Leu786Pro)
c.2339T>C (p.Leu780Pro)
c.2309T>C (p.Leu770Pro)
c.2267T>C (p.Leu756Pro)
c.2174T>C (p.Leu725Pro)
c.2186T>C (p.Leu729Pro)
c.2268+19749T>C (n.2268+19749T>C)
15g.27851405A>TCA391359991OCA2c.2315T>A (p.Leu772Gln)
c.2243T>A (p.Leu748Gln)
c.2381T>A (p.Leu794Gln)
c.2357T>A (p.Leu786Gln)
c.2339T>A (p.Leu780Gln)
c.2309T>A (p.Leu770Gln)
c.2267T>A (p.Leu756Gln)
c.2174T>A (p.Leu725Gln)
c.2186T>A (p.Leu729Gln)
c.2268+19749T>A (n.2268+19749T>A)
15g.27851406G>ACA7438639OCA2c.2314C>T (p.Leu772=)
c.2242C>T (p.Leu748=)
c.2380C>T (p.Leu794=)
c.2356C>T (p.Leu786=)
c.2338C>T (p.Leu780=)
c.2308C>T (p.Leu770=)
c.2266C>T (p.Leu756=)
c.2173C>T (p.Leu725=)
c.2185C>T (p.Leu729=)
c.2268+19748C>T (n.2268+19748C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851406G>CCA7438640OCA2c.2314C>G (p.Leu772Val)
c.2242C>G (p.Leu748Val)
c.2380C>G (p.Leu794Val)
c.2356C>G (p.Leu786Val)
c.2338C>G (p.Leu780Val)
c.2308C>G (p.Leu770Val)
c.2266C>G (p.Leu756Val)
c.2173C>G (p.Leu725Val)
c.2185C>G (p.Leu729Val)
c.2268+19748C>G (n.2268+19748C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851406G=CA2166351997OCA2c.2314C= (p.Leu772=)
c.2242C= (p.Leu748=)
c.2380C= (p.Leu794=)
c.2356C= (p.Leu786=)
c.2338C= (p.Leu780=)
c.2308C= (p.Leu770=)
c.2266C= (p.Leu756=)
c.2173C= (p.Leu725=)
c.2185C= (p.Leu729=)
c.2268+19748C= (n.2268+19748C=)
15g.27851406G>TCA391359996OCA2c.2314C>A (p.Leu772Met)
c.2242C>A (p.Leu748Met)
c.2380C>A (p.Leu794Met)
c.2356C>A (p.Leu786Met)
c.2338C>A (p.Leu780Met)
c.2308C>A (p.Leu770Met)
c.2266C>A (p.Leu756Met)
c.2173C>A (p.Leu725Met)
c.2185C>A (p.Leu729Met)
c.2268+19748C>A (n.2268+19748C>A)
15g.27851407G>ACA7438641OCA2c.2313C>T (p.Ala771=)
c.2241C>T (p.Ala747=)
c.2379C>T (p.Ala793=)
c.2355C>T (p.Ala785=)
c.2337C>T (p.Ala779=)
c.2307C>T (p.Ala769=)
c.2265C>T (p.Ala755=)
c.2172C>T (p.Ala724=)
c.2184C>T (p.Ala728=)
c.2268+19747C>T (n.2268+19747C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851407G>CCA488959041OCA2c.2313C>G (p.Ala771=)
c.2241C>G (p.Ala747=)
c.2379C>G (p.Ala793=)
c.2355C>G (p.Ala785=)
c.2337C>G (p.Ala779=)
c.2307C>G (p.Ala769=)
c.2265C>G (p.Ala755=)
c.2172C>G (p.Ala724=)
c.2184C>G (p.Ala728=)
c.2268+19747C>G (n.2268+19747C>G)
ClinVar gnomAD v4
15g.27851407G=CA2166351998OCA2c.2313C= (p.Ala771=)
c.2241C= (p.Ala747=)
c.2379C= (p.Ala793=)
c.2355C= (p.Ala785=)
c.2337C= (p.Ala779=)
c.2307C= (p.Ala769=)
c.2265C= (p.Ala755=)
c.2172C= (p.Ala724=)
c.2184C= (p.Ala728=)
c.2268+19747C= (n.2268+19747C=)
15g.27851407G>TCA488959042OCA2c.2313C>A (p.Ala771=)
c.2241C>A (p.Ala747=)
c.2379C>A (p.Ala793=)
c.2355C>A (p.Ala785=)
c.2337C>A (p.Ala779=)
c.2307C>A (p.Ala769=)
c.2265C>A (p.Ala755=)
c.2172C>A (p.Ala724=)
c.2184C>A (p.Ala728=)
c.2268+19747C>A (n.2268+19747C>A)
15g.27851408G>ACA391360012OCA2c.2312C>T (p.Ala771Val)
c.2240C>T (p.Ala747Val)
c.2378C>T (p.Ala793Val)
c.2354C>T (p.Ala785Val)
c.2336C>T (p.Ala779Val)
c.2306C>T (p.Ala769Val)
c.2264C>T (p.Ala755Val)
c.2171C>T (p.Ala724Val)
c.2183C>T (p.Ala728Val)
c.2268+19746C>T (n.2268+19746C>T)
gnomAD v4 COSMIC
15g.27851408G>CCA391360005OCA2c.2312C>G (p.Ala771Gly)
c.2240C>G (p.Ala747Gly)
c.2378C>G (p.Ala793Gly)
c.2354C>G (p.Ala785Gly)
c.2336C>G (p.Ala779Gly)
c.2306C>G (p.Ala769Gly)
c.2264C>G (p.Ala755Gly)
c.2171C>G (p.Ala724Gly)
c.2183C>G (p.Ala728Gly)
c.2268+19746C>G (n.2268+19746C>G)
15g.27851408G>TCA391360009OCA2c.2312C>A (p.Ala771Asp)
c.2240C>A (p.Ala747Asp)
c.2378C>A (p.Ala793Asp)
c.2354C>A (p.Ala785Asp)
c.2336C>A (p.Ala779Asp)
c.2306C>A (p.Ala769Asp)
c.2264C>A (p.Ala755Asp)
c.2171C>A (p.Ala724Asp)
c.2183C>A (p.Ala728Asp)
c.2268+19746C>A (n.2268+19746C>A)
15g.27851409C>ACA7438642OCA2c.2311G>T (p.Ala771Ser)
c.2239G>T (p.Ala747Ser)
c.2377G>T (p.Ala793Ser)
c.2353G>T (p.Ala785Ser)
c.2335G>T (p.Ala779Ser)
c.2305G>T (p.Ala769Ser)
c.2263G>T (p.Ala755Ser)
c.2170G>T (p.Ala724Ser)
c.2182G>T (p.Ala728Ser)
c.2268+19745G>T (n.2268+19745G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851409C=CA2166351999OCA2c.2311G= (p.Ala771=)
c.2239G= (p.Ala747=)
c.2377G= (p.Ala793=)
c.2353G= (p.Ala785=)
c.2335G= (p.Ala779=)
c.2305G= (p.Ala769=)
c.2263G= (p.Ala755=)
c.2170G= (p.Ala724=)
c.2182G= (p.Ala728=)
c.2268+19745G= (n.2268+19745G=)
15g.27851409C>GCA391360015OCA2c.2311G>C (p.Ala771Pro)
c.2239G>C (p.Ala747Pro)
c.2377G>C (p.Ala793Pro)
c.2353G>C (p.Ala785Pro)
c.2335G>C (p.Ala779Pro)
c.2305G>C (p.Ala769Pro)
c.2263G>C (p.Ala755Pro)
c.2170G>C (p.Ala724Pro)
c.2182G>C (p.Ala728Pro)
c.2268+19745G>C (n.2268+19745G>C)
15g.27851409C>TCA391360017OCA2c.2311G>A (p.Ala771Thr)
c.2239G>A (p.Ala747Thr)
c.2377G>A (p.Ala793Thr)
c.2353G>A (p.Ala785Thr)
c.2335G>A (p.Ala779Thr)
c.2305G>A (p.Ala769Thr)
c.2263G>A (p.Ala755Thr)
c.2170G>A (p.Ala724Thr)
c.2182G>A (p.Ala728Thr)
c.2268+19745G>A (n.2268+19745G>A)
dbSNP gnomAD v2 gnomAD v4
15g.27851410A=CA2166352000OCA2c.2310T= (p.Tyr770=)
c.2238T= (p.Tyr746=)
c.2376T= (p.Tyr792=)
c.2352T= (p.Tyr784=)
c.2334T= (p.Tyr778=)
c.2304T= (p.Tyr768=)
c.2262T= (p.Tyr754=)
c.2169T= (p.Tyr723=)
c.2181T= (p.Tyr727=)
c.2268+19744T= (n.2268+19744T=)
15g.27851410A>CCA267845081OCA2c.2310T>G (p.Tyr770Ter)
c.2238T>G (p.Tyr746Ter)
c.2376T>G (p.Tyr792Ter)
c.2352T>G (p.Tyr784Ter)
c.2334T>G (p.Tyr778Ter)
c.2304T>G (p.Tyr768Ter)
c.2262T>G (p.Tyr754Ter)
c.2169T>G (p.Tyr723Ter)
c.2181T>G (p.Tyr727Ter)
c.2268+19744T>G (n.2268+19744T>G)
dbSNP gnomAD v2 gnomAD v4
15g.27851410A>GCA7438643OCA2c.2310T>C (p.Tyr770=)
c.2238T>C (p.Tyr746=)
c.2376T>C (p.Tyr792=)
c.2352T>C (p.Tyr784=)
c.2334T>C (p.Tyr778=)
c.2304T>C (p.Tyr768=)
c.2262T>C (p.Tyr754=)
c.2169T>C (p.Tyr723=)
c.2181T>C (p.Tyr727=)
c.2268+19744T>C (n.2268+19744T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851410A>TCA391360019OCA2c.2310T>A (p.Tyr770Ter)
c.2238T>A (p.Tyr746Ter)
c.2376T>A (p.Tyr792Ter)
c.2352T>A (p.Tyr784Ter)
c.2334T>A (p.Tyr778Ter)
c.2304T>A (p.Tyr768Ter)
c.2262T>A (p.Tyr754Ter)
c.2169T>A (p.Tyr723Ter)
c.2181T>A (p.Tyr727Ter)
c.2268+19744T>A (n.2268+19744T>A)
dbSNP
15g.27851411T>ACA391360023OCA2c.2309A>T (p.Tyr770Phe)
c.2237A>T (p.Tyr746Phe)
c.2375A>T (p.Tyr792Phe)
c.2351A>T (p.Tyr784Phe)
c.2333A>T (p.Tyr778Phe)
c.2303A>T (p.Tyr768Phe)
c.2261A>T (p.Tyr754Phe)
c.2168A>T (p.Tyr723Phe)
c.2180A>T (p.Tyr727Phe)
c.2268+19743A>T (n.2268+19743A>T)
15g.27851411T>CCA391360024OCA2c.2309A>G (p.Tyr770Cys)
c.2237A>G (p.Tyr746Cys)
c.2375A>G (p.Tyr792Cys)
c.2351A>G (p.Tyr784Cys)
c.2333A>G (p.Tyr778Cys)
c.2303A>G (p.Tyr768Cys)
c.2261A>G (p.Tyr754Cys)
c.2168A>G (p.Tyr723Cys)
c.2180A>G (p.Tyr727Cys)
c.2268+19743A>G (n.2268+19743A>G)
ClinVar
15g.27851411T>GCA391360026OCA2c.2309A>C (p.Tyr770Ser)
c.2237A>C (p.Tyr746Ser)
c.2375A>C (p.Tyr792Ser)
c.2351A>C (p.Tyr784Ser)
c.2333A>C (p.Tyr778Ser)
c.2303A>C (p.Tyr768Ser)
c.2261A>C (p.Tyr754Ser)
c.2168A>C (p.Tyr723Ser)
c.2180A>C (p.Tyr727Ser)
c.2268+19743A>C (n.2268+19743A>C)
15g.27851412A>CCA391360027OCA2c.2308T>G (p.Tyr770Asp)
c.2236T>G (p.Tyr746Asp)
c.2374T>G (p.Tyr792Asp)
c.2350T>G (p.Tyr784Asp)
c.2332T>G (p.Tyr778Asp)
c.2302T>G (p.Tyr768Asp)
c.2260T>G (p.Tyr754Asp)
c.2167T>G (p.Tyr723Asp)
c.2179T>G (p.Tyr727Asp)
c.2268+19742T>G (n.2268+19742T>G)
15g.27851412A>GCA391360029OCA2c.2308T>C (p.Tyr770His)
c.2236T>C (p.Tyr746His)
c.2374T>C (p.Tyr792His)
c.2350T>C (p.Tyr784His)
c.2332T>C (p.Tyr778His)
c.2302T>C (p.Tyr768His)
c.2260T>C (p.Tyr754His)
c.2167T>C (p.Tyr723His)
c.2179T>C (p.Tyr727His)
c.2268+19742T>C (n.2268+19742T>C)
15g.27851412A>TCA391360030OCA2c.2308T>A (p.Tyr770Asn)
c.2236T>A (p.Tyr746Asn)
c.2374T>A (p.Tyr792Asn)
c.2350T>A (p.Tyr784Asn)
c.2332T>A (p.Tyr778Asn)
c.2302T>A (p.Tyr768Asn)
c.2260T>A (p.Tyr754Asn)
c.2167T>A (p.Tyr723Asn)
c.2179T>A (p.Tyr727Asn)
c.2268+19742T>A (n.2268+19742T>A)
15g.27851413C>ACA391360031OCA2c.2307G>T (p.Met769Ile)
c.2235G>T (p.Met745Ile)
c.2373G>T (p.Met791Ile)
c.2349G>T (p.Met783Ile)
c.2331G>T (p.Met777Ile)
c.2301G>T (p.Met767Ile)
c.2259G>T (p.Met753Ile)
c.2166G>T (p.Met722Ile)
c.2178G>T (p.Met726Ile)
c.2268+19741G>T (n.2268+19741G>T)
15g.27851413C>GCA391360033OCA2c.2307G>C (p.Met769Ile)
c.2235G>C (p.Met745Ile)
c.2373G>C (p.Met791Ile)
c.2349G>C (p.Met783Ile)
c.2331G>C (p.Met777Ile)
c.2301G>C (p.Met767Ile)
c.2259G>C (p.Met753Ile)
c.2166G>C (p.Met722Ile)
c.2178G>C (p.Met726Ile)
c.2268+19741G>C (n.2268+19741G>C)
15g.27851413C>TCA391360032OCA2c.2307G>A (p.Met769Ile)
c.2235G>A (p.Met745Ile)
c.2373G>A (p.Met791Ile)
c.2349G>A (p.Met783Ile)
c.2331G>A (p.Met777Ile)
c.2301G>A (p.Met767Ile)
c.2259G>A (p.Met753Ile)
c.2166G>A (p.Met722Ile)
c.2178G>A (p.Met726Ile)
c.2268+19741G>A (n.2268+19741G>A)
15g.27851414A=CA2166352001OCA2c.2306T= (p.Met769=)
c.2234T= (p.Met745=)
c.2372T= (p.Met791=)
c.2348T= (p.Met783=)
c.2330T= (p.Met777=)
c.2300T= (p.Met767=)
c.2258T= (p.Met753=)
c.2165T= (p.Met722=)
c.2177T= (p.Met726=)
c.2268+19740T= (n.2268+19740T=)
15g.27851414A>CCA391360034OCA2c.2306T>G (p.Met769Arg)
c.2234T>G (p.Met745Arg)
c.2372T>G (p.Met791Arg)
c.2348T>G (p.Met783Arg)
c.2330T>G (p.Met777Arg)
c.2300T>G (p.Met767Arg)
c.2258T>G (p.Met753Arg)
c.2165T>G (p.Met722Arg)
c.2177T>G (p.Met726Arg)
c.2268+19740T>G (n.2268+19740T>G)
gnomAD v4
15g.27851414A>GCA7438644OCA2c.2306T>C (p.Met769Thr)
c.2234T>C (p.Met745Thr)
c.2372T>C (p.Met791Thr)
c.2348T>C (p.Met783Thr)
c.2330T>C (p.Met777Thr)
c.2300T>C (p.Met767Thr)
c.2258T>C (p.Met753Thr)
c.2165T>C (p.Met722Thr)
c.2177T>C (p.Met726Thr)
c.2268+19740T>C (n.2268+19740T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851414A>TCA391360037OCA2c.2306T>A (p.Met769Lys)
c.2234T>A (p.Met745Lys)
c.2372T>A (p.Met791Lys)
c.2348T>A (p.Met783Lys)
c.2330T>A (p.Met777Lys)
c.2300T>A (p.Met767Lys)
c.2258T>A (p.Met753Lys)
c.2165T>A (p.Met722Lys)
c.2177T>A (p.Met726Lys)
c.2268+19740T>A (n.2268+19740T>A)
15g.27851415T>ACA391360042OCA2c.2305A>T (p.Met769Leu)
c.2233A>T (p.Met745Leu)
c.2371A>T (p.Met791Leu)
c.2347A>T (p.Met783Leu)
c.2329A>T (p.Met777Leu)
c.2299A>T (p.Met767Leu)
c.2257A>T (p.Met753Leu)
c.2164A>T (p.Met722Leu)
c.2176A>T (p.Met726Leu)
c.2268+19739A>T (n.2268+19739A>T)
dbSNP gnomAD v4
15g.27851415T>CCA7438645OCA2c.2305A>G (p.Met769Val)
c.2233A>G (p.Met745Val)
c.2371A>G (p.Met791Val)
c.2347A>G (p.Met783Val)
c.2329A>G (p.Met777Val)
c.2299A>G (p.Met767Val)
c.2257A>G (p.Met753Val)
c.2164A>G (p.Met722Val)
c.2176A>G (p.Met726Val)
c.2268+19739A>G (n.2268+19739A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851415T>GCA391360044OCA2c.2305A>C (p.Met769Leu)
c.2233A>C (p.Met745Leu)
c.2371A>C (p.Met791Leu)
c.2347A>C (p.Met783Leu)
c.2329A>C (p.Met777Leu)
c.2299A>C (p.Met767Leu)
c.2257A>C (p.Met753Leu)
c.2164A>C (p.Met722Leu)
c.2176A>C (p.Met726Leu)
c.2268+19739A>C (n.2268+19739A>C)
15g.27851415T=CA2166352002OCA2c.2305A= (p.Met769=)
c.2233A= (p.Met745=)
c.2371A= (p.Met791=)
c.2347A= (p.Met783=)
c.2329A= (p.Met777=)
c.2299A= (p.Met767=)
c.2257A= (p.Met753=)
c.2164A= (p.Met722=)
c.2176A= (p.Met726=)
c.2268+19739A= (n.2268+19739A=)
15g.27851416G>ACA488959054OCA2c.2304C>T (p.Leu768=)
c.2232C>T (p.Leu744=)
c.2370C>T (p.Leu790=)
c.2346C>T (p.Leu782=)
c.2328C>T (p.Leu776=)
c.2298C>T (p.Leu766=)
c.2256C>T (p.Leu752=)
c.2163C>T (p.Leu721=)
c.2175C>T (p.Leu725=)
c.2268+19738C>T (n.2268+19738C>T)
ClinVar dbSNP gnomAD v4
15g.27851416G>CCA488959053OCA2c.2304C>G (p.Leu768=)
c.2232C>G (p.Leu744=)
c.2370C>G (p.Leu790=)
c.2346C>G (p.Leu782=)
c.2328C>G (p.Leu776=)
c.2298C>G (p.Leu766=)
c.2256C>G (p.Leu752=)
c.2163C>G (p.Leu721=)
c.2175C>G (p.Leu725=)
c.2268+19738C>G (n.2268+19738C>G)
15g.27851416G=CA2166352003OCA2c.2304C= (p.Leu768=)
c.2232C= (p.Leu744=)
c.2370C= (p.Leu790=)
c.2346C= (p.Leu782=)
c.2328C= (p.Leu776=)
c.2298C= (p.Leu766=)
c.2256C= (p.Leu752=)
c.2163C= (p.Leu721=)
c.2175C= (p.Leu725=)
c.2268+19738C= (n.2268+19738C=)
15g.27851416G>TCA488959052OCA2c.2304C>A (p.Leu768=)
c.2232C>A (p.Leu744=)
c.2370C>A (p.Leu790=)
c.2346C>A (p.Leu782=)
c.2328C>A (p.Leu776=)
c.2298C>A (p.Leu766=)
c.2256C>A (p.Leu752=)
c.2163C>A (p.Leu721=)
c.2175C>A (p.Leu725=)
c.2268+19738C>A (n.2268+19738C>A)
ClinVar dbSNP
15g.27851417A>CCA391360046OCA2c.2303T>G (p.Leu768Arg)
c.2231T>G (p.Leu744Arg)
c.2369T>G (p.Leu790Arg)
c.2345T>G (p.Leu782Arg)
c.2327T>G (p.Leu776Arg)
c.2297T>G (p.Leu766Arg)
c.2255T>G (p.Leu752Arg)
c.2162T>G (p.Leu721Arg)
c.2174T>G (p.Leu725Arg)
c.2268+19737T>G (n.2268+19737T>G)
15g.27851417A>GCA391360047OCA2c.2303T>C (p.Leu768Pro)
c.2231T>C (p.Leu744Pro)
c.2369T>C (p.Leu790Pro)
c.2345T>C (p.Leu782Pro)
c.2327T>C (p.Leu776Pro)
c.2297T>C (p.Leu766Pro)
c.2255T>C (p.Leu752Pro)
c.2162T>C (p.Leu721Pro)
c.2174T>C (p.Leu725Pro)
c.2268+19737T>C (n.2268+19737T>C)
15g.27851417A>TCA391360049OCA2c.2303T>A (p.Leu768His)
c.2231T>A (p.Leu744His)
c.2369T>A (p.Leu790His)
c.2345T>A (p.Leu782His)
c.2327T>A (p.Leu776His)
c.2297T>A (p.Leu766His)
c.2255T>A (p.Leu752His)
c.2162T>A (p.Leu721His)
c.2174T>A (p.Leu725His)
c.2268+19737T>A (n.2268+19737T>A)
15g.27851418G>ACA391360051OCA2c.2302C>T (p.Leu768Phe)
c.2230C>T (p.Leu744Phe)
c.2368C>T (p.Leu790Phe)
c.2344C>T (p.Leu782Phe)
c.2326C>T (p.Leu776Phe)
c.2296C>T (p.Leu766Phe)
c.2254C>T (p.Leu752Phe)
c.2161C>T (p.Leu721Phe)
c.2173C>T (p.Leu725Phe)
c.2268+19736C>T (n.2268+19736C>T)
15g.27851418G>CCA391360053OCA2c.2302C>G (p.Leu768Val)
c.2230C>G (p.Leu744Val)
c.2368C>G (p.Leu790Val)
c.2344C>G (p.Leu782Val)
c.2326C>G (p.Leu776Val)
c.2296C>G (p.Leu766Val)
c.2254C>G (p.Leu752Val)
c.2161C>G (p.Leu721Val)
c.2173C>G (p.Leu725Val)
c.2268+19736C>G (n.2268+19736C>G)
15g.27851418G>TCA391360054OCA2c.2302C>A (p.Leu768Ile)
c.2230C>A (p.Leu744Ile)
c.2368C>A (p.Leu790Ile)
c.2344C>A (p.Leu782Ile)
c.2326C>A (p.Leu776Ile)
c.2296C>A (p.Leu766Ile)
c.2254C>A (p.Leu752Ile)
c.2161C>A (p.Leu721Ile)
c.2173C>A (p.Leu725Ile)
c.2268+19736C>A (n.2268+19736C>A)
15g.27851419C>ACA7438647OCA2c.2301G>T (p.Pro767=)
c.2229G>T (p.Pro743=)
c.2367G>T (p.Pro789=)
c.2343G>T (p.Pro781=)
c.2325G>T (p.Pro775=)
c.2295G>T (p.Pro765=)
c.2253G>T (p.Pro751=)
c.2160G>T (p.Pro720=)
c.2172G>T (p.Pro724=)
c.2268+19735G>T (n.2268+19735G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851419C=CA2166352004OCA2c.2301G= (p.Pro767=)
c.2229G= (p.Pro743=)
c.2367G= (p.Pro789=)
c.2343G= (p.Pro781=)
c.2325G= (p.Pro775=)
c.2295G= (p.Pro765=)
c.2253G= (p.Pro751=)
c.2160G= (p.Pro720=)
c.2172G= (p.Pro724=)
c.2268+19735G= (n.2268+19735G=)
15g.27851419C>GCA488959057OCA2c.2301G>C (p.Pro767=)
c.2229G>C (p.Pro743=)
c.2367G>C (p.Pro789=)
c.2343G>C (p.Pro781=)
c.2325G>C (p.Pro775=)
c.2295G>C (p.Pro765=)
c.2253G>C (p.Pro751=)
c.2160G>C (p.Pro720=)
c.2172G>C (p.Pro724=)
c.2268+19735G>C (n.2268+19735G>C)
gnomAD v4
15g.27851419C>TCA7438646OCA2c.2301G>A (p.Pro767=)
c.2229G>A (p.Pro743=)
c.2367G>A (p.Pro789=)
c.2343G>A (p.Pro781=)
c.2325G>A (p.Pro775=)
c.2295G>A (p.Pro765=)
c.2253G>A (p.Pro751=)
c.2160G>A (p.Pro720=)
c.2172G>A (p.Pro724=)
c.2268+19735G>A (n.2268+19735G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27851420G>ACA7438648OCA2c.2300C>T (p.Pro767Leu)
c.2228C>T (p.Pro743Leu)
c.2366C>T (p.Pro789Leu)
c.2342C>T (p.Pro781Leu)
c.2324C>T (p.Pro775Leu)
c.2294C>T (p.Pro765Leu)
c.2252C>T (p.Pro751Leu)
c.2159C>T (p.Pro720Leu)
c.2171C>T (p.Pro724Leu)
c.2268+19734C>T (n.2268+19734C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851420G>CCA391360058OCA2c.2300C>G (p.Pro767Arg)
c.2228C>G (p.Pro743Arg)
c.2366C>G (p.Pro789Arg)
c.2342C>G (p.Pro781Arg)
c.2324C>G (p.Pro775Arg)
c.2294C>G (p.Pro765Arg)
c.2252C>G (p.Pro751Arg)
c.2159C>G (p.Pro720Arg)
c.2171C>G (p.Pro724Arg)
c.2268+19734C>G (n.2268+19734C>G)
15g.27851420G=CA2166352005OCA2c.2300C= (p.Pro767=)
c.2228C= (p.Pro743=)
c.2366C= (p.Pro789=)
c.2342C= (p.Pro781=)
c.2324C= (p.Pro775=)
c.2294C= (p.Pro765=)
c.2252C= (p.Pro751=)
c.2159C= (p.Pro720=)
c.2171C= (p.Pro724=)
c.2268+19734C= (n.2268+19734C=)
15g.27851420G>TCA391360059OCA2c.2300C>A (p.Pro767Gln)
c.2228C>A (p.Pro743Gln)
c.2366C>A (p.Pro789Gln)
c.2342C>A (p.Pro781Gln)
c.2324C>A (p.Pro775Gln)
c.2294C>A (p.Pro765Gln)
c.2252C>A (p.Pro751Gln)
c.2159C>A (p.Pro720Gln)
c.2171C>A (p.Pro724Gln)
c.2268+19734C>A (n.2268+19734C>A)
15g.27851421dupCA2838647495OCA2c.2300dup (p.Leu768AlafsTer14)
c.2228dup (p.Leu744AlafsTer14)
c.2366dup (p.Leu790AlafsTer14)
c.2342dup (p.Leu782AlafsTer14)
c.2324dup (p.Leu776AlafsTer14)
c.2294dup (p.Leu766AlafsTer14)
c.2252dup (p.Leu752AlafsTer14)
c.2159dup (p.Leu721AlafsTer14)
c.2171dup (p.Leu725AlafsTer14)
c.2268+19734dup (n.2268+19734dup)
15g.27851421G>ACA391360062OCA2c.2299C>T (p.Pro767Ser)
c.2227C>T (p.Pro743Ser)
c.2365C>T (p.Pro789Ser)
c.2341C>T (p.Pro781Ser)
c.2323C>T (p.Pro775Ser)
c.2293C>T (p.Pro765Ser)
c.2251C>T (p.Pro751Ser)
c.2158C>T (p.Pro720Ser)
c.2170C>T (p.Pro724Ser)
c.2268+19733C>T (n.2268+19733C>T)
gnomAD v4
15g.27851421G>CCA391360064OCA2c.2299C>G (p.Pro767Ala)
c.2227C>G (p.Pro743Ala)
c.2365C>G (p.Pro789Ala)
c.2341C>G (p.Pro781Ala)
c.2323C>G (p.Pro775Ala)
c.2293C>G (p.Pro765Ala)
c.2251C>G (p.Pro751Ala)
c.2158C>G (p.Pro720Ala)
c.2170C>G (p.Pro724Ala)
c.2268+19733C>G (n.2268+19733C>G)
15g.27851421G=CA2166352006OCA2c.2299C= (p.Pro767=)
c.2227C= (p.Pro743=)
c.2365C= (p.Pro789=)
c.2341C= (p.Pro781=)
c.2323C= (p.Pro775=)
c.2293C= (p.Pro765=)
c.2251C= (p.Pro751=)
c.2158C= (p.Pro720=)
c.2170C= (p.Pro724=)
c.2268+19733C= (n.2268+19733C=)
15g.27851421G>TCA391360066OCA2c.2299C>A (p.Pro767Thr)
c.2227C>A (p.Pro743Thr)
c.2365C>A (p.Pro789Thr)
c.2341C>A (p.Pro781Thr)
c.2323C>A (p.Pro775Thr)
c.2293C>A (p.Pro765Thr)
c.2251C>A (p.Pro751Thr)
c.2158C>A (p.Pro720Thr)
c.2170C>A (p.Pro724Thr)
c.2268+19733C>A (n.2268+19733C>A)
dbSNP
15g.27851422C>ACA488959059OCA2c.2298G>T (p.Pro766=)
c.2226G>T (p.Pro742=)
c.2364G>T (p.Pro788=)
c.2340G>T (p.Pro780=)
c.2322G>T (p.Pro774=)
c.2292G>T (p.Pro764=)
c.2250G>T (p.Pro750=)
c.2157G>T (p.Pro719=)
c.2169G>T (p.Pro723=)
c.2268+19732G>T (n.2268+19732G>T)
ClinVar
15g.27851422C=CA2166352007OCA2c.2298G= (p.Pro766=)
c.2226G= (p.Pro742=)
c.2364G= (p.Pro788=)
c.2340G= (p.Pro780=)
c.2322G= (p.Pro774=)
c.2292G= (p.Pro764=)
c.2250G= (p.Pro750=)
c.2157G= (p.Pro719=)
c.2169G= (p.Pro723=)
c.2268+19732G= (n.2268+19732G=)
15g.27851422C>GCA488959060OCA2c.2298G>C (p.Pro766=)
c.2226G>C (p.Pro742=)
c.2364G>C (p.Pro788=)
c.2340G>C (p.Pro780=)
c.2322G>C (p.Pro774=)
c.2292G>C (p.Pro764=)
c.2250G>C (p.Pro750=)
c.2157G>C (p.Pro719=)
c.2169G>C (p.Pro723=)
c.2268+19732G>C (n.2268+19732G>C)
15g.27851422C>TCA267845152OCA2c.2298G>A (p.Pro766=)
c.2226G>A (p.Pro742=)
c.2364G>A (p.Pro788=)
c.2340G>A (p.Pro780=)
c.2322G>A (p.Pro774=)
c.2292G>A (p.Pro764=)
c.2250G>A (p.Pro750=)
c.2157G>A (p.Pro719=)
c.2169G>A (p.Pro723=)
c.2268+19732G>A (n.2268+19732G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27851423G>ACA7438649OCA2c.2297C>T (p.Pro766Leu)
c.2225C>T (p.Pro742Leu)
c.2363C>T (p.Pro788Leu)
c.2339C>T (p.Pro780Leu)
c.2321C>T (p.Pro774Leu)
c.2291C>T (p.Pro764Leu)
c.2249C>T (p.Pro750Leu)
c.2156C>T (p.Pro719Leu)
c.2168C>T (p.Pro723Leu)
c.2268+19731C>T (n.2268+19731C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851423G>CCA391360068OCA2c.2297C>G (p.Pro766Arg)
c.2225C>G (p.Pro742Arg)
c.2363C>G (p.Pro788Arg)
c.2339C>G (p.Pro780Arg)
c.2321C>G (p.Pro774Arg)
c.2291C>G (p.Pro764Arg)
c.2249C>G (p.Pro750Arg)
c.2156C>G (p.Pro719Arg)
c.2168C>G (p.Pro723Arg)
c.2268+19731C>G (n.2268+19731C>G)
15g.27851423G=CA2166352008OCA2c.2297C= (p.Pro766=)
c.2225C= (p.Pro742=)
c.2363C= (p.Pro788=)
c.2339C= (p.Pro780=)
c.2321C= (p.Pro774=)
c.2291C= (p.Pro764=)
c.2249C= (p.Pro750=)
c.2156C= (p.Pro719=)
c.2168C= (p.Pro723=)
c.2268+19731C= (n.2268+19731C=)
15g.27851423G>TCA391360070OCA2c.2297C>A (p.Pro766Gln)
c.2225C>A (p.Pro742Gln)
c.2363C>A (p.Pro788Gln)
c.2339C>A (p.Pro780Gln)
c.2321C>A (p.Pro774Gln)
c.2291C>A (p.Pro764Gln)
c.2249C>A (p.Pro750Gln)
c.2156C>A (p.Pro719Gln)
c.2168C>A (p.Pro723Gln)
c.2268+19731C>A (n.2268+19731C>A)
gnomAD v4
15g.27851424G>ACA391360072OCA2c.2296C>T (p.Pro766Ser)
c.2224C>T (p.Pro742Ser)
c.2362C>T (p.Pro788Ser)
c.2338C>T (p.Pro780Ser)
c.2320C>T (p.Pro774Ser)
c.2290C>T (p.Pro764Ser)
c.2248C>T (p.Pro750Ser)
c.2155C>T (p.Pro719Ser)
c.2167C>T (p.Pro723Ser)
c.2268+19730C>T (n.2268+19730C>T)
dbSNP gnomAD v4
15g.27851424G>CCA7438651OCA2c.2296C>G (p.Pro766Ala)
c.2224C>G (p.Pro742Ala)
c.2362C>G (p.Pro788Ala)
c.2338C>G (p.Pro780Ala)
c.2320C>G (p.Pro774Ala)
c.2290C>G (p.Pro764Ala)
c.2248C>G (p.Pro750Ala)
c.2155C>G (p.Pro719Ala)
c.2167C>G (p.Pro723Ala)
c.2268+19730C>G (n.2268+19730C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851424G=CA2166352009OCA2c.2296C= (p.Pro766=)
c.2224C= (p.Pro742=)
c.2362C= (p.Pro788=)
c.2338C= (p.Pro780=)
c.2320C= (p.Pro774=)
c.2290C= (p.Pro764=)
c.2248C= (p.Pro750=)
c.2155C= (p.Pro719=)
c.2167C= (p.Pro723=)
c.2268+19730C= (n.2268+19730C=)
15g.27851424G>TCA7438650OCA2c.2296C>A (p.Pro766Thr)
c.2224C>A (p.Pro742Thr)
c.2362C>A (p.Pro788Thr)
c.2338C>A (p.Pro780Thr)
c.2320C>A (p.Pro774Thr)
c.2290C>A (p.Pro764Thr)
c.2248C>A (p.Pro750Thr)
c.2155C>A (p.Pro719Thr)
c.2167C>A (p.Pro723Thr)
c.2268+19730C>A (n.2268+19730C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851425T>ACA488959065OCA2c.2295A>T (p.Ala765=)
c.2223A>T (p.Ala741=)
c.2361A>T (p.Ala787=)
c.2337A>T (p.Ala779=)
c.2319A>T (p.Ala773=)
c.2289A>T (p.Ala763=)
c.2247A>T (p.Ala749=)
c.2154A>T (p.Ala718=)
c.2166A>T (p.Ala722=)
c.2268+19729A>T (n.2268+19729A>T)
15g.27851425T>CCA7438652OCA2c.2295A>G (p.Ala765=)
c.2223A>G (p.Ala741=)
c.2361A>G (p.Ala787=)
c.2337A>G (p.Ala779=)
c.2319A>G (p.Ala773=)
c.2289A>G (p.Ala763=)
c.2247A>G (p.Ala749=)
c.2154A>G (p.Ala718=)
c.2166A>G (p.Ala722=)
c.2268+19729A>G (n.2268+19729A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851425T>GCA267845163OCA2c.2295A>C (p.Ala765=)
c.2223A>C (p.Ala741=)
c.2361A>C (p.Ala787=)
c.2337A>C (p.Ala779=)
c.2319A>C (p.Ala773=)
c.2289A>C (p.Ala763=)
c.2247A>C (p.Ala749=)
c.2154A>C (p.Ala718=)
c.2166A>C (p.Ala722=)
c.2268+19729A>C (n.2268+19729A>C)
dbSNP
15g.27851425T=CA2166352010OCA2c.2295A= (p.Ala765=)
c.2223A= (p.Ala741=)
c.2361A= (p.Ala787=)
c.2337A= (p.Ala779=)
c.2319A= (p.Ala773=)
c.2289A= (p.Ala763=)
c.2247A= (p.Ala749=)
c.2154A= (p.Ala718=)
c.2166A= (p.Ala722=)
c.2268+19729A= (n.2268+19729A=)
15g.27851426G>ACA391360075OCA2c.2294C>T (p.Ala765Val)
c.2222C>T (p.Ala741Val)
c.2360C>T (p.Ala787Val)
c.2336C>T (p.Ala779Val)
c.2318C>T (p.Ala773Val)
c.2288C>T (p.Ala763Val)
c.2246C>T (p.Ala749Val)
c.2153C>T (p.Ala718Val)
c.2165C>T (p.Ala722Val)
c.2268+19728C>T (n.2268+19728C>T)
dbSNP
15g.27851426G>CCA391360078OCA2c.2294C>G (p.Ala765Gly)
c.2222C>G (p.Ala741Gly)
c.2360C>G (p.Ala787Gly)
c.2336C>G (p.Ala779Gly)
c.2318C>G (p.Ala773Gly)
c.2288C>G (p.Ala763Gly)
c.2246C>G (p.Ala749Gly)
c.2153C>G (p.Ala718Gly)
c.2165C>G (p.Ala722Gly)
c.2268+19728C>G (n.2268+19728C>G)
15g.27851426G=CA2166352011OCA2c.2294C= (p.Ala765=)
c.2222C= (p.Ala741=)
c.2360C= (p.Ala787=)
c.2336C= (p.Ala779=)
c.2318C= (p.Ala773=)
c.2288C= (p.Ala763=)
c.2246C= (p.Ala749=)
c.2153C= (p.Ala718=)
c.2165C= (p.Ala722=)
c.2268+19728C= (n.2268+19728C=)
15g.27851426G>TCA391360077OCA2c.2294C>A (p.Ala765Glu)
c.2222C>A (p.Ala741Glu)
c.2360C>A (p.Ala787Glu)
c.2336C>A (p.Ala779Glu)
c.2318C>A (p.Ala773Glu)
c.2288C>A (p.Ala763Glu)
c.2246C>A (p.Ala749Glu)
c.2153C>A (p.Ala718Glu)
c.2165C>A (p.Ala722Glu)
c.2268+19728C>A (n.2268+19728C>A)
15g.27851427C>ACA391360079OCA2c.2293G>T (p.Ala765Ser)
c.2221G>T (p.Ala741Ser)
c.2359G>T (p.Ala787Ser)
c.2335G>T (p.Ala779Ser)
c.2317G>T (p.Ala773Ser)
c.2287G>T (p.Ala763Ser)
c.2245G>T (p.Ala749Ser)
c.2152G>T (p.Ala718Ser)
c.2164G>T (p.Ala722Ser)
c.2268+19727G>T (n.2268+19727G>T)
gnomAD v4
15g.27851427C=CA2166352012OCA2c.2293G= (p.Ala765=)
c.2221G= (p.Ala741=)
c.2359G= (p.Ala787=)
c.2335G= (p.Ala779=)
c.2317G= (p.Ala773=)
c.2287G= (p.Ala763=)
c.2245G= (p.Ala749=)
c.2152G= (p.Ala718=)
c.2164G= (p.Ala722=)
c.2268+19727G= (n.2268+19727G=)
15g.27851427C>GCA391360080OCA2c.2293G>C (p.Ala765Pro)
c.2221G>C (p.Ala741Pro)
c.2359G>C (p.Ala787Pro)
c.2335G>C (p.Ala779Pro)
c.2317G>C (p.Ala773Pro)
c.2287G>C (p.Ala763Pro)
c.2245G>C (p.Ala749Pro)
c.2152G>C (p.Ala718Pro)
c.2164G>C (p.Ala722Pro)
c.2268+19727G>C (n.2268+19727G>C)
15g.27851427C>TCA242139OCA2c.2293G>A (p.Ala765Thr)
c.2221G>A (p.Ala741Thr)
c.2359G>A (p.Ala787Thr)
c.2335G>A (p.Ala779Thr)
c.2317G>A (p.Ala773Thr)
c.2287G>A (p.Ala763Thr)
c.2245G>A (p.Ala749Thr)
c.2152G>A (p.Ala718Thr)
c.2164G>A (p.Ala722Thr)
c.2268+19727G>A (n.2268+19727G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851428G>ACA7438653OCA2c.2292C>T (p.Pro764=)
c.2220C>T (p.Pro740=)
c.2358C>T (p.Pro786=)
c.2334C>T (p.Pro778=)
c.2316C>T (p.Pro772=)
c.2286C>T (p.Pro762=)
c.2244C>T (p.Pro748=)
c.2151C>T (p.Pro717=)
c.2163C>T (p.Pro721=)
c.2268+19726C>T (n.2268+19726C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851428G>CCA488959070OCA2c.2292C>G (p.Pro764=)
c.2220C>G (p.Pro740=)
c.2358C>G (p.Pro786=)
c.2334C>G (p.Pro778=)
c.2316C>G (p.Pro772=)
c.2286C>G (p.Pro762=)
c.2244C>G (p.Pro748=)
c.2151C>G (p.Pro717=)
c.2163C>G (p.Pro721=)
c.2268+19726C>G (n.2268+19726C>G)
ClinVar gnomAD v4
15g.27851428G=CA2166352013OCA2c.2292C= (p.Pro764=)
c.2220C= (p.Pro740=)
c.2358C= (p.Pro786=)
c.2334C= (p.Pro778=)
c.2316C= (p.Pro772=)
c.2286C= (p.Pro762=)
c.2244C= (p.Pro748=)
c.2151C= (p.Pro717=)
c.2163C= (p.Pro721=)
c.2268+19726C= (n.2268+19726C=)
15g.27851428G>TCA488959071OCA2c.2292C>A (p.Pro764=)
c.2220C>A (p.Pro740=)
c.2358C>A (p.Pro786=)
c.2334C>A (p.Pro778=)
c.2316C>A (p.Pro772=)
c.2286C>A (p.Pro762=)
c.2244C>A (p.Pro748=)
c.2151C>A (p.Pro717=)
c.2163C>A (p.Pro721=)
c.2268+19726C>A (n.2268+19726C>A)
15g.27851429G>ACA267845178OCA2c.2291C>T (p.Pro764Leu)
c.2219C>T (p.Pro740Leu)
c.2357C>T (p.Pro786Leu)
c.2333C>T (p.Pro778Leu)
c.2315C>T (p.Pro772Leu)
c.2285C>T (p.Pro762Leu)
c.2243C>T (p.Pro748Leu)
c.2150C>T (p.Pro717Leu)
c.2162C>T (p.Pro721Leu)
c.2268+19725C>T (n.2268+19725C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27851429G>CCA391360086OCA2c.2291C>G (p.Pro764Arg)
c.2219C>G (p.Pro740Arg)
c.2357C>G (p.Pro786Arg)
c.2333C>G (p.Pro778Arg)
c.2315C>G (p.Pro772Arg)
c.2285C>G (p.Pro762Arg)
c.2243C>G (p.Pro748Arg)
c.2150C>G (p.Pro717Arg)
c.2162C>G (p.Pro721Arg)
c.2268+19725C>G (n.2268+19725C>G)
15g.27851429G=CA2166352014OCA2c.2291C= (p.Pro764=)
c.2219C= (p.Pro740=)
c.2357C= (p.Pro786=)
c.2333C= (p.Pro778=)
c.2315C= (p.Pro772=)
c.2285C= (p.Pro762=)
c.2243C= (p.Pro748=)
c.2150C= (p.Pro717=)
c.2162C= (p.Pro721=)
c.2268+19725C= (n.2268+19725C=)
15g.27851429G>TCA391360089OCA2c.2291C>A (p.Pro764His)
c.2219C>A (p.Pro740His)
c.2357C>A (p.Pro786His)
c.2333C>A (p.Pro778His)
c.2315C>A (p.Pro772His)
c.2285C>A (p.Pro762His)
c.2243C>A (p.Pro748His)
c.2150C>A (p.Pro717His)
c.2162C>A (p.Pro721His)
c.2268+19725C>A (n.2268+19725C>A)
15g.27851430G>ACA391360092OCA2c.2290C>T (p.Pro764Ser)
c.2218C>T (p.Pro740Ser)
c.2356C>T (p.Pro786Ser)
c.2332C>T (p.Pro778Ser)
c.2314C>T (p.Pro772Ser)
c.2284C>T (p.Pro762Ser)
c.2242C>T (p.Pro748Ser)
c.2149C>T (p.Pro717Ser)
c.2161C>T (p.Pro721Ser)
c.2268+19724C>T (n.2268+19724C>T)
dbSNP gnomAD v2 gnomAD v4
15g.27851430G>CCA7438654OCA2c.2290C>G (p.Pro764Ala)
c.2218C>G (p.Pro740Ala)
c.2356C>G (p.Pro786Ala)
c.2332C>G (p.Pro778Ala)
c.2314C>G (p.Pro772Ala)
c.2284C>G (p.Pro762Ala)
c.2242C>G (p.Pro748Ala)
c.2149C>G (p.Pro717Ala)
c.2161C>G (p.Pro721Ala)
c.2268+19724C>G (n.2268+19724C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851430G=CA2166352015OCA2c.2290C= (p.Pro764=)
c.2218C= (p.Pro740=)
c.2356C= (p.Pro786=)
c.2332C= (p.Pro778=)
c.2314C= (p.Pro772=)
c.2284C= (p.Pro762=)
c.2242C= (p.Pro748=)
c.2149C= (p.Pro717=)
c.2161C= (p.Pro721=)
c.2268+19724C= (n.2268+19724C=)
15g.27851430G>TCA391360094OCA2c.2290C>A (p.Pro764Thr)
c.2218C>A (p.Pro740Thr)
c.2356C>A (p.Pro786Thr)
c.2332C>A (p.Pro778Thr)
c.2314C>A (p.Pro772Thr)
c.2284C>A (p.Pro762Thr)
c.2242C>A (p.Pro748Thr)
c.2149C>A (p.Pro717Thr)
c.2161C>A (p.Pro721Thr)
c.2268+19724C>A (n.2268+19724C>A)
15g.27851431C>ACA7438655OCA2c.2289G>T (p.Leu763=)
c.2217G>T (p.Leu739=)
c.2355G>T (p.Leu785=)
c.2331G>T (p.Leu777=)
c.2313G>T (p.Leu771=)
c.2283G>T (p.Leu761=)
c.2241G>T (p.Leu747=)
c.2148G>T (p.Leu716=)
c.2160G>T (p.Leu720=)
c.2268+19723G>T (n.2268+19723G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851431C=CA2166352016OCA2c.2289G= (p.Leu763=)
c.2217G= (p.Leu739=)
c.2355G= (p.Leu785=)
c.2331G= (p.Leu777=)
c.2313G= (p.Leu771=)
c.2283G= (p.Leu761=)
c.2241G= (p.Leu747=)
c.2148G= (p.Leu716=)
c.2160G= (p.Leu720=)
c.2268+19723G= (n.2268+19723G=)
15g.27851431C>GCA488959076OCA2c.2289G>C (p.Leu763=)
c.2217G>C (p.Leu739=)
c.2355G>C (p.Leu785=)
c.2331G>C (p.Leu777=)
c.2313G>C (p.Leu771=)
c.2283G>C (p.Leu761=)
c.2241G>C (p.Leu747=)
c.2148G>C (p.Leu716=)
c.2160G>C (p.Leu720=)
c.2268+19723G>C (n.2268+19723G>C)
15g.27851431C>TCA488959077OCA2c.2289G>A (p.Leu763=)
c.2217G>A (p.Leu739=)
c.2355G>A (p.Leu785=)
c.2331G>A (p.Leu777=)
c.2313G>A (p.Leu771=)
c.2283G>A (p.Leu761=)
c.2241G>A (p.Leu747=)
c.2148G>A (p.Leu716=)
c.2160G>A (p.Leu720=)
c.2268+19723G>A (n.2268+19723G>A)
gnomAD v4
15g.27851432A>CCA391360096OCA2c.2288T>G (p.Leu763Arg)
c.2216T>G (p.Leu739Arg)
c.2354T>G (p.Leu785Arg)
c.2330T>G (p.Leu777Arg)
c.2312T>G (p.Leu771Arg)
c.2282T>G (p.Leu761Arg)
c.2240T>G (p.Leu747Arg)
c.2147T>G (p.Leu716Arg)
c.2159T>G (p.Leu720Arg)
c.2268+19722T>G (n.2268+19722T>G)
15g.27851432A>GCA391360105OCA2c.2288T>C (p.Leu763Pro)
c.2216T>C (p.Leu739Pro)
c.2354T>C (p.Leu785Pro)
c.2330T>C (p.Leu777Pro)
c.2312T>C (p.Leu771Pro)
c.2282T>C (p.Leu761Pro)
c.2240T>C (p.Leu747Pro)
c.2147T>C (p.Leu716Pro)
c.2159T>C (p.Leu720Pro)
c.2268+19722T>C (n.2268+19722T>C)
15g.27851432A>TCA391360098OCA2c.2288T>A (p.Leu763Gln)
c.2216T>A (p.Leu739Gln)
c.2354T>A (p.Leu785Gln)
c.2330T>A (p.Leu777Gln)
c.2312T>A (p.Leu771Gln)
c.2282T>A (p.Leu761Gln)
c.2240T>A (p.Leu747Gln)
c.2147T>A (p.Leu716Gln)
c.2159T>A (p.Leu720Gln)
c.2268+19722T>A (n.2268+19722T>A)
15g.27851433G>ACA7438657OCA2c.2287C>T (p.Leu763=)
c.2215C>T (p.Leu739=)
c.2353C>T (p.Leu785=)
c.2329C>T (p.Leu777=)
c.2311C>T (p.Leu771=)
c.2281C>T (p.Leu761=)
c.2239C>T (p.Leu747=)
c.2146C>T (p.Leu716=)
c.2158C>T (p.Leu720=)
c.2268+19721C>T (n.2268+19721C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851433G>CCA391360110OCA2c.2287C>G (p.Leu763Val)
c.2215C>G (p.Leu739Val)
c.2353C>G (p.Leu785Val)
c.2329C>G (p.Leu777Val)
c.2311C>G (p.Leu771Val)
c.2281C>G (p.Leu761Val)
c.2239C>G (p.Leu747Val)
c.2146C>G (p.Leu716Val)
c.2158C>G (p.Leu720Val)
c.2268+19721C>G (n.2268+19721C>G)
dbSNP gnomAD v4
15g.27851433G=CA2166352017OCA2c.2287C= (p.Leu763=)
c.2215C= (p.Leu739=)
c.2353C= (p.Leu785=)
c.2329C= (p.Leu777=)
c.2311C= (p.Leu771=)
c.2281C= (p.Leu761=)
c.2239C= (p.Leu747=)
c.2146C= (p.Leu716=)
c.2158C= (p.Leu720=)
c.2268+19721C= (n.2268+19721C=)
15g.27851433G>TCA7438656OCA2c.2287C>A (p.Leu763Met)
c.2215C>A (p.Leu739Met)
c.2353C>A (p.Leu785Met)
c.2329C>A (p.Leu777Met)
c.2311C>A (p.Leu771Met)
c.2281C>A (p.Leu761Met)
c.2239C>A (p.Leu747Met)
c.2146C>A (p.Leu716Met)
c.2158C>A (p.Leu720Met)
c.2268+19721C>A (n.2268+19721C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851434G>ACA488959081OCA2c.2286C>T (p.Gly762=)
c.2214C>T (p.Gly738=)
c.2352C>T (p.Gly784=)
c.2328C>T (p.Gly776=)
c.2310C>T (p.Gly770=)
c.2280C>T (p.Gly760=)
c.2238C>T (p.Gly746=)
c.2145C>T (p.Gly715=)
c.2157C>T (p.Gly719=)
c.2268+19720C>T (n.2268+19720C>T)
gnomAD v4
15g.27851434G>CCA488959084OCA2c.2286C>G (p.Gly762=)
c.2214C>G (p.Gly738=)
c.2352C>G (p.Gly784=)
c.2328C>G (p.Gly776=)
c.2310C>G (p.Gly770=)
c.2280C>G (p.Gly760=)
c.2238C>G (p.Gly746=)
c.2145C>G (p.Gly715=)
c.2157C>G (p.Gly719=)
c.2268+19720C>G (n.2268+19720C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27851434G=CA2166352018OCA2c.2286C= (p.Gly762=)
c.2214C= (p.Gly738=)
c.2352C= (p.Gly784=)
c.2328C= (p.Gly776=)
c.2310C= (p.Gly770=)
c.2280C= (p.Gly760=)
c.2238C= (p.Gly746=)
c.2145C= (p.Gly715=)
c.2157C= (p.Gly719=)
c.2268+19720C= (n.2268+19720C=)
15g.27851434G>TCA488959082OCA2c.2286C>A (p.Gly762=)
c.2214C>A (p.Gly738=)
c.2352C>A (p.Gly784=)
c.2328C>A (p.Gly776=)
c.2310C>A (p.Gly770=)
c.2280C>A (p.Gly760=)
c.2238C>A (p.Gly746=)
c.2145C>A (p.Gly715=)
c.2157C>A (p.Gly719=)
c.2268+19720C>A (n.2268+19720C>A)
15g.27851435C>ACA391360112OCA2c.2285G>T (p.Gly762Val)
c.2213G>T (p.Gly738Val)
c.2351G>T (p.Gly784Val)
c.2327G>T (p.Gly776Val)
c.2309G>T (p.Gly770Val)
c.2279G>T (p.Gly760Val)
c.2237G>T (p.Gly746Val)
c.2144G>T (p.Gly715Val)
c.2156G>T (p.Gly719Val)
c.2268+19719G>T (n.2268+19719G>T)
15g.27851435C=CA2166352019OCA2c.2285G= (p.Gly762=)
c.2213G= (p.Gly738=)
c.2351G= (p.Gly784=)
c.2327G= (p.Gly776=)
c.2309G= (p.Gly770=)
c.2279G= (p.Gly760=)
c.2237G= (p.Gly746=)
c.2144G= (p.Gly715=)
c.2156G= (p.Gly719=)
c.2268+19719G= (n.2268+19719G=)
15g.27851435C>GCA391360114OCA2c.2285G>C (p.Gly762Ala)
c.2213G>C (p.Gly738Ala)
c.2351G>C (p.Gly784Ala)
c.2327G>C (p.Gly776Ala)
c.2309G>C (p.Gly770Ala)
c.2279G>C (p.Gly760Ala)
c.2237G>C (p.Gly746Ala)
c.2144G>C (p.Gly715Ala)
c.2156G>C (p.Gly719Ala)
c.2268+19719G>C (n.2268+19719G>C)
15g.27851435C>TCA391360115OCA2c.2285G>A (p.Gly762Asp)
c.2213G>A (p.Gly738Asp)
c.2351G>A (p.Gly784Asp)
c.2327G>A (p.Gly776Asp)
c.2309G>A (p.Gly770Asp)
c.2279G>A (p.Gly760Asp)
c.2237G>A (p.Gly746Asp)
c.2144G>A (p.Gly715Asp)
c.2156G>A (p.Gly719Asp)
c.2268+19719G>A (n.2268+19719G>A)
dbSNP gnomAD v4
15g.27851436C>ACA391360117OCA2c.2284G>T (p.Gly762Cys)
c.2212G>T (p.Gly738Cys)
c.2350G>T (p.Gly784Cys)
c.2326G>T (p.Gly776Cys)
c.2308G>T (p.Gly770Cys)
c.2278G>T (p.Gly760Cys)
c.2236G>T (p.Gly746Cys)
c.2143G>T (p.Gly715Cys)
c.2155G>T (p.Gly719Cys)
c.2268+19718G>T (n.2268+19718G>T)
15g.27851436C=CA2166352020OCA2c.2284G= (p.Gly762=)
c.2212G= (p.Gly738=)
c.2350G= (p.Gly784=)
c.2326G= (p.Gly776=)
c.2308G= (p.Gly770=)
c.2278G= (p.Gly760=)
c.2236G= (p.Gly746=)
c.2143G= (p.Gly715=)
c.2155G= (p.Gly719=)
c.2268+19718G= (n.2268+19718G=)
15g.27851436C>GCA391360119OCA2c.2284G>C (p.Gly762Arg)
c.2212G>C (p.Gly738Arg)
c.2350G>C (p.Gly784Arg)
c.2326G>C (p.Gly776Arg)
c.2308G>C (p.Gly770Arg)
c.2278G>C (p.Gly760Arg)
c.2236G>C (p.Gly746Arg)
c.2143G>C (p.Gly715Arg)
c.2155G>C (p.Gly719Arg)
c.2268+19718G>C (n.2268+19718G>C)
15g.27851436C>TCA391360120OCA2c.2284G>A (p.Gly762Ser)
c.2212G>A (p.Gly738Ser)
c.2350G>A (p.Gly784Ser)
c.2326G>A (p.Gly776Ser)
c.2308G>A (p.Gly770Ser)
c.2278G>A (p.Gly760Ser)
c.2236G>A (p.Gly746Ser)
c.2143G>A (p.Gly715Ser)
c.2155G>A (p.Gly719Ser)
c.2268+19718G>A (n.2268+19718G>A)
dbSNP
15g.27851437A>CCA488959085OCA2c.2283T>G (p.Val761=)
c.2211T>G (p.Val737=)
c.2349T>G (p.Val783=)
c.2325T>G (p.Val775=)
c.2307T>G (p.Val769=)
c.2277T>G (p.Val759=)
c.2235T>G (p.Val745=)
c.2142T>G (p.Val714=)
c.2154T>G (p.Val718=)
c.2268+19717T>G (n.2268+19717T>G)
15g.27851437A>GCA488959086OCA2c.2283T>C (p.Val761=)
c.2211T>C (p.Val737=)
c.2349T>C (p.Val783=)
c.2325T>C (p.Val775=)
c.2307T>C (p.Val769=)
c.2277T>C (p.Val759=)
c.2235T>C (p.Val745=)
c.2142T>C (p.Val714=)
c.2154T>C (p.Val718=)
c.2268+19717T>C (n.2268+19717T>C)
15g.27851437A>TCA488959087OCA2c.2283T>A (p.Val761=)
c.2211T>A (p.Val737=)
c.2349T>A (p.Val783=)
c.2325T>A (p.Val775=)
c.2307T>A (p.Val769=)
c.2277T>A (p.Val759=)
c.2235T>A (p.Val745=)
c.2142T>A (p.Val714=)
c.2154T>A (p.Val718=)
c.2268+19717T>A (n.2268+19717T>A)
15g.27851438A=CA2166352021OCA2c.2282T= (p.Val761=)
c.2210T= (p.Val737=)
c.2348T= (p.Val783=)
c.2324T= (p.Val775=)
c.2306T= (p.Val769=)
c.2276T= (p.Val759=)
c.2234T= (p.Val745=)
c.2141T= (p.Val714=)
c.2153T= (p.Val718=)
c.2268+19716T= (n.2268+19716T=)
15g.27851438A>CCA391360121OCA2c.2282T>G (p.Val761Gly)
c.2210T>G (p.Val737Gly)
c.2348T>G (p.Val783Gly)
c.2324T>G (p.Val775Gly)
c.2306T>G (p.Val769Gly)
c.2276T>G (p.Val759Gly)
c.2234T>G (p.Val745Gly)
c.2141T>G (p.Val714Gly)
c.2153T>G (p.Val718Gly)
c.2268+19716T>G (n.2268+19716T>G)
15g.27851438A>GCA391360123OCA2c.2282T>C (p.Val761Ala)
c.2210T>C (p.Val737Ala)
c.2348T>C (p.Val783Ala)
c.2324T>C (p.Val775Ala)
c.2306T>C (p.Val769Ala)
c.2276T>C (p.Val759Ala)
c.2234T>C (p.Val745Ala)
c.2141T>C (p.Val714Ala)
c.2153T>C (p.Val718Ala)
c.2268+19716T>C (n.2268+19716T>C)
ClinVar dbSNP
15g.27851438A>TCA7438658OCA2c.2282T>A (p.Val761Asp)
c.2210T>A (p.Val737Asp)
c.2348T>A (p.Val783Asp)
c.2324T>A (p.Val775Asp)
c.2306T>A (p.Val769Asp)
c.2276T>A (p.Val759Asp)
c.2234T>A (p.Val745Asp)
c.2141T>A (p.Val714Asp)
c.2153T>A (p.Val718Asp)
c.2268+19716T>A (n.2268+19716T>A)
dbSNP ExAC gnomAD v2
15g.27851439C>ACA391360124OCA2c.2281G>T (p.Val761Phe)
c.2209G>T (p.Val737Phe)
c.2347G>T (p.Val783Phe)
c.2323G>T (p.Val775Phe)
c.2305G>T (p.Val769Phe)
c.2275G>T (p.Val759Phe)
c.2233G>T (p.Val745Phe)
c.2140G>T (p.Val714Phe)
c.2152G>T (p.Val718Phe)
c.2268+19715G>T (n.2268+19715G>T)
15g.27851439C>GCA391360126OCA2c.2281G>C (p.Val761Leu)
c.2209G>C (p.Val737Leu)
c.2347G>C (p.Val783Leu)
c.2323G>C (p.Val775Leu)
c.2305G>C (p.Val769Leu)
c.2275G>C (p.Val759Leu)
c.2233G>C (p.Val745Leu)
c.2140G>C (p.Val714Leu)
c.2152G>C (p.Val718Leu)
c.2268+19715G>C (n.2268+19715G>C)
gnomAD v4
15g.27851439C>TCA391360127OCA2c.2281G>A (p.Val761Ile)
c.2209G>A (p.Val737Ile)
c.2347G>A (p.Val783Ile)
c.2323G>A (p.Val775Ile)
c.2305G>A (p.Val769Ile)
c.2275G>A (p.Val759Ile)
c.2233G>A (p.Val745Ile)
c.2140G>A (p.Val714Ile)
c.2152G>A (p.Val718Ile)
c.2268+19715G>A (n.2268+19715G>A)
15g.27851440C>ACA391360129OCA2c.2280G>T (p.Glu760Asp)
c.2208G>T (p.Glu736Asp)
c.2346G>T (p.Glu782Asp)
c.2322G>T (p.Glu774Asp)
c.2304G>T (p.Glu768Asp)
c.2274G>T (p.Glu758Asp)
c.2232G>T (p.Glu744Asp)
c.2139G>T (p.Glu713Asp)
c.2151G>T (p.Glu717Asp)
c.2268+19714G>T (n.2268+19714G>T)
15g.27851440C>GCA391360128OCA2c.2280G>C (p.Glu760Asp)
c.2208G>C (p.Glu736Asp)
c.2346G>C (p.Glu782Asp)
c.2322G>C (p.Glu774Asp)
c.2304G>C (p.Glu768Asp)
c.2274G>C (p.Glu758Asp)
c.2232G>C (p.Glu744Asp)
c.2139G>C (p.Glu713Asp)
c.2151G>C (p.Glu717Asp)
c.2268+19714G>C (n.2268+19714G>C)
15g.27851440C>TCA488959088OCA2c.2280G>A (p.Glu760=)
c.2208G>A (p.Glu736=)
c.2346G>A (p.Glu782=)
c.2322G>A (p.Glu774=)
c.2304G>A (p.Glu768=)
c.2274G>A (p.Glu758=)
c.2232G>A (p.Glu744=)
c.2139G>A (p.Glu713=)
c.2151G>A (p.Glu717=)
c.2268+19714G>A (n.2268+19714G>A)
ClinVar
15g.27851441T>ACA7438659OCA2c.2279A>T (p.Glu760Val)
c.2207A>T (p.Glu736Val)
c.2345A>T (p.Glu782Val)
c.2321A>T (p.Glu774Val)
c.2303A>T (p.Glu768Val)
c.2273A>T (p.Glu758Val)
c.2231A>T (p.Glu744Val)
c.2138A>T (p.Glu713Val)
c.2150A>T (p.Glu717Val)
c.2268+19713A>T (n.2268+19713A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27851441T>CCA391360136OCA2c.2279A>G (p.Glu760Gly)
c.2207A>G (p.Glu736Gly)
c.2345A>G (p.Glu782Gly)
c.2321A>G (p.Glu774Gly)
c.2303A>G (p.Glu768Gly)
c.2273A>G (p.Glu758Gly)
c.2231A>G (p.Glu744Gly)
c.2138A>G (p.Glu713Gly)
c.2150A>G (p.Glu717Gly)
c.2268+19713A>G (n.2268+19713A>G)
15g.27851441T>GCA391360137OCA2c.2279A>C (p.Glu760Ala)
c.2207A>C (p.Glu736Ala)
c.2345A>C (p.Glu782Ala)
c.2321A>C (p.Glu774Ala)
c.2303A>C (p.Glu768Ala)
c.2273A>C (p.Glu758Ala)
c.2231A>C (p.Glu744Ala)
c.2138A>C (p.Glu713Ala)
c.2150A>C (p.Glu717Ala)
c.2268+19713A>C (n.2268+19713A>C)
15g.27851441T=CA2166352022OCA2c.2279A= (p.Glu760=)
c.2207A= (p.Glu736=)
c.2345A= (p.Glu782=)
c.2321A= (p.Glu774=)
c.2303A= (p.Glu768=)
c.2273A= (p.Glu758=)
c.2231A= (p.Glu744=)
c.2138A= (p.Glu713=)
c.2150A= (p.Glu717=)
c.2268+19713A= (n.2268+19713A=)
15g.27851442C>ACA391360138OCA2c.2278G>T (p.Glu760Ter)
c.2206G>T (p.Glu736Ter)
c.2344G>T (p.Glu782Ter)
c.2320G>T (p.Glu774Ter)
c.2302G>T (p.Glu768Ter)
c.2272G>T (p.Glu758Ter)
c.2230G>T (p.Glu744Ter)
c.2137G>T (p.Glu713Ter)
c.2149G>T (p.Glu717Ter)
c.2268+19712G>T (n.2268+19712G>T)
15g.27851442C>GCA391360139OCA2c.2278G>C (p.Glu760Gln)
c.2206G>C (p.Glu736Gln)
c.2344G>C (p.Glu782Gln)
c.2320G>C (p.Glu774Gln)
c.2302G>C (p.Glu768Gln)
c.2272G>C (p.Glu758Gln)
c.2230G>C (p.Glu744Gln)
c.2137G>C (p.Glu713Gln)
c.2149G>C (p.Glu717Gln)
c.2268+19712G>C (n.2268+19712G>C)
15g.27851442C>TCA391360142OCA2c.2278G>A (p.Glu760Lys)
c.2206G>A (p.Glu736Lys)
c.2344G>A (p.Glu782Lys)
c.2320G>A (p.Glu774Lys)
c.2302G>A (p.Glu768Lys)
c.2272G>A (p.Glu758Lys)
c.2230G>A (p.Glu744Lys)
c.2137G>A (p.Glu713Lys)
c.2149G>A (p.Glu717Lys)
c.2268+19712G>A (n.2268+19712G>A)
ClinVar
15g.27851443A=CA2166352023OCA2c.2277T= (p.Pro759=)
c.2205T= (p.Pro735=)
c.2343T= (p.Pro781=)
c.2319T= (p.Pro773=)
c.2301T= (p.Pro767=)
c.2271T= (p.Pro757=)
c.2229T= (p.Pro743=)
c.2136T= (p.Pro712=)
c.2148T= (p.Pro716=)
c.2268+19711T= (n.2268+19711T=)
15g.27851443A>CCA488959091OCA2c.2277T>G (p.Pro759=)
c.2205T>G (p.Pro735=)
c.2343T>G (p.Pro781=)
c.2319T>G (p.Pro773=)
c.2301T>G (p.Pro767=)
c.2271T>G (p.Pro757=)
c.2229T>G (p.Pro743=)
c.2136T>G (p.Pro712=)
c.2148T>G (p.Pro716=)
c.2268+19711T>G (n.2268+19711T>G)
dbSNP
15g.27851443A>GCA488959092OCA2c.2277T>C (p.Pro759=)
c.2205T>C (p.Pro735=)
c.2343T>C (p.Pro781=)
c.2319T>C (p.Pro773=)
c.2301T>C (p.Pro767=)
c.2271T>C (p.Pro757=)
c.2229T>C (p.Pro743=)
c.2136T>C (p.Pro712=)
c.2148T>C (p.Pro716=)
c.2268+19711T>C (n.2268+19711T>C)
15g.27851443A>TCA488959093OCA2c.2277T>A (p.Pro759=)
c.2205T>A (p.Pro735=)
c.2343T>A (p.Pro781=)
c.2319T>A (p.Pro773=)
c.2301T>A (p.Pro767=)
c.2271T>A (p.Pro757=)
c.2229T>A (p.Pro743=)
c.2136T>A (p.Pro712=)
c.2148T>A (p.Pro716=)
c.2268+19711T>A (n.2268+19711T>A)
15g.27851444G>ACA391360144OCA2c.2276C>T (p.Pro759Leu)
c.2204C>T (p.Pro735Leu)
c.2342C>T (p.Pro781Leu)
c.2318C>T (p.Pro773Leu)
c.2300C>T (p.Pro767Leu)
c.2270C>T (p.Pro757Leu)
c.2228C>T (p.Pro743Leu)
c.2135C>T (p.Pro712Leu)
c.2147C>T (p.Pro716Leu)
c.2268+19710C>T (n.2268+19710C>T)
gnomAD v4
15g.27851444G>CCA391360147OCA2c.2276C>G (p.Pro759Arg)
c.2204C>G (p.Pro735Arg)
c.2342C>G (p.Pro781Arg)
c.2318C>G (p.Pro773Arg)
c.2300C>G (p.Pro767Arg)
c.2270C>G (p.Pro757Arg)
c.2228C>G (p.Pro743Arg)
c.2135C>G (p.Pro712Arg)
c.2147C>G (p.Pro716Arg)
c.2268+19710C>G (n.2268+19710C>G)
15g.27851444G>TCA391360149OCA2c.2276C>A (p.Pro759His)
c.2204C>A (p.Pro735His)
c.2342C>A (p.Pro781His)
c.2318C>A (p.Pro773His)
c.2300C>A (p.Pro767His)
c.2270C>A (p.Pro757His)
c.2228C>A (p.Pro743His)
c.2135C>A (p.Pro712His)
c.2147C>A (p.Pro716His)
c.2268+19710C>A (n.2268+19710C>A)
15g.27851445G>ACA7438660OCA2c.2275C>T (p.Pro759Ser)
c.2203C>T (p.Pro735Ser)
c.2341C>T (p.Pro781Ser)
c.2317C>T (p.Pro773Ser)
c.2299C>T (p.Pro767Ser)
c.2269C>T (p.Pro757Ser)
c.2227C>T (p.Pro743Ser)
c.2134C>T (p.Pro712Ser)
c.2146C>T (p.Pro716Ser)
c.2268+19709C>T (n.2268+19709C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851445G>CCA391360152OCA2c.2275C>G (p.Pro759Ala)
c.2203C>G (p.Pro735Ala)
c.2341C>G (p.Pro781Ala)
c.2317C>G (p.Pro773Ala)
c.2299C>G (p.Pro767Ala)
c.2269C>G (p.Pro757Ala)
c.2227C>G (p.Pro743Ala)
c.2134C>G (p.Pro712Ala)
c.2146C>G (p.Pro716Ala)
c.2268+19709C>G (n.2268+19709C>G)
15g.27851445G=CA2166352024OCA2c.2275C= (p.Pro759=)
c.2203C= (p.Pro735=)
c.2341C= (p.Pro781=)
c.2317C= (p.Pro773=)
c.2299C= (p.Pro767=)
c.2269C= (p.Pro757=)
c.2227C= (p.Pro743=)
c.2134C= (p.Pro712=)
c.2146C= (p.Pro716=)
c.2268+19709C= (n.2268+19709C=)
15g.27851445G>TCA391360154OCA2c.2275C>A (p.Pro759Thr)
c.2203C>A (p.Pro735Thr)
c.2341C>A (p.Pro781Thr)
c.2317C>A (p.Pro773Thr)
c.2299C>A (p.Pro767Thr)
c.2269C>A (p.Pro757Thr)
c.2227C>A (p.Pro743Thr)
c.2134C>A (p.Pro712Thr)
c.2146C>A (p.Pro716Thr)
c.2268+19709C>A (n.2268+19709C>A)
15g.27851446G>ACA488959095OCA2c.2274C>T (p.Asp758=)
c.2202C>T (p.Asp734=)
c.2340C>T (p.Asp780=)
c.2316C>T (p.Asp772=)
c.2298C>T (p.Asp766=)
c.2268C>T (p.Asp756=)
c.2226C>T (p.Asp742=)
c.2133C>T (p.Asp711=)
c.2145C>T (p.Asp715=)
c.2268+19708C>T (n.2268+19708C>T)
dbSNP gnomAD v2
15g.27851446G>CCA391360155OCA2c.2274C>G (p.Asp758Glu)
c.2202C>G (p.Asp734Glu)
c.2340C>G (p.Asp780Glu)
c.2316C>G (p.Asp772Glu)
c.2298C>G (p.Asp766Glu)
c.2268C>G (p.Asp756Glu)
c.2226C>G (p.Asp742Glu)
c.2133C>G (p.Asp711Glu)
c.2145C>G (p.Asp715Glu)
c.2268+19708C>G (n.2268+19708C>G)
15g.27851446G=CA2166352025OCA2c.2274C= (p.Asp758=)
c.2202C= (p.Asp734=)
c.2340C= (p.Asp780=)
c.2316C= (p.Asp772=)
c.2298C= (p.Asp766=)
c.2268C= (p.Asp756=)
c.2226C= (p.Asp742=)
c.2133C= (p.Asp711=)
c.2145C= (p.Asp715=)
c.2268+19708C= (n.2268+19708C=)
15g.27851446G>TCA391360156OCA2c.2274C>A (p.Asp758Glu)
c.2202C>A (p.Asp734Glu)
c.2340C>A (p.Asp780Glu)
c.2316C>A (p.Asp772Glu)
c.2298C>A (p.Asp766Glu)
c.2268C>A (p.Asp756Glu)
c.2226C>A (p.Asp742Glu)
c.2133C>A (p.Asp711Glu)
c.2145C>A (p.Asp715Glu)
c.2268+19708C>A (n.2268+19708C>A)
dbSNP

Number of alleles fetched